| 单词 | genetic disease |
| 例句 | My wife and I had lost our first two children; we’d decided to abort after prenatal diagnoses of a rare but invariably fatal genetic disease. Geeks: How Two Lost Boys Rode the Internet Out of Idaho 2000-01-01T00:00:00Z They also house blood samples taken from most infants born in the United States since the late sixties, when states started mandating the screening of all newborns for genetic diseases. The Immortal Life of Henrietta Lacks 2010-02-02T00:00:00Z Once scientists knew how many chromosomes people were supposed to have, they could tell when a person had too many or too few, which made it possible to diagnose genetic diseases. The Immortal Life of Henrietta Lacks 2010-02-02T00:00:00Z The idea of deadly insomnia isn’t purely science fiction: There is an extremely rare, genetic disease known as fatal familial insomnia. Books of The Times: Karen Russell’s ‘Sleep Donation’ 2014-04-02T20:29:11Z The women were all born with the genetic disease Mayer-Rokitansky-Kuster-Hauser syndrome, which affects one in 4,500 girls. Miraculous medicine! Lab-grown vaginas successfully implanted in 4 women 2014-04-11T15:40:00Z When people with this autoimmune genetic disease eat gluten, it damages their small intestine, leading to other long-term health effects. Gluten-sensitive liberals? Investigating the stereotype suggests food fads unite us all 2019-11-24T05:00:00Z Did you always dream that one day you would play a billionaire tech genius with an obscure genetic disease? In ‘Next,’ a ‘Mad Men’ Star Gets Madder 2020-10-06T04:00:00Z What if people made fun of her son, who has a rare genetic disease that has stunted his growth? Webcam wonder: It's Keenan's world, for now 2011-04-18T08:31:04Z Who would mistake a biomedical company known for its work on genetic diseases with a religious terrorist group? So You Run a Company Named Isis... 2014-09-03T04:00:00Z Years ahead of her time, DeLisi is convinced that schizophrenia is largely a genetic disease and through force of will, she seeks to make the case. Good Looks Ran in the Family. So Did Schizophrenia. 2020-04-03T04:00:00Z According to Lackey, spinal muscular atrophy is a "genetic disease that causes muscle wasting." Mom modifies daughter's 'Elf on the Shelf' doll with functional wheelchair 2021-12-25T05:00:00Z “I’m not surprised your dog was negative for those diseases, because those genetic diseases don’t occur very often in mixed-breed dogs,” she said. Stop mansplaining my dog to me: decoding my pup's DNA 2018-04-24T04:00:00Z The statistics are appalling: 30% of children in this country with serious genetic diseases are British Pakistani; yet the ethnic grouping makes up only 1.5% of our population. Last week's TV 2010-08-28T23:06:00Z As well as increased difficulty with conception, and fewer options when it comes to fertility treatments, there is a clear link between genetic disease and advanced paternal age. ‘There was nothing wrong with my wife – it was me’: the men waking up to fertility problems 2016-03-19T04:00:00Z But as the spotlight grows on rare genetic diseases, patients and their family members are coming together to put pressure on the federal government to bring down the cost of these drugs. Spinal Muscular Atrophy: Indians who need $2.1m drug to fight a rare disease 2023-11-05T04:00:00Z He, like his father, had a genetic disease called osteogenesis imperfecta or brittle bone disease. How WA’s mental health labyrinth claimed a life 2023-10-22T04:00:00Z It is one of the most common fatal genetic diseases in the United States. Synthetic molecules can 'ferry' mucus-clearing ions blocked by cystic fibrosis 2023-10-10T04:00:00Z Nephronophthisis, which all three children have, is a genetic disease which leads to kidney failure usually before the age of 30. Hexham family's heartache as third child needs kidney transplant 2023-09-23T04:00:00Z Computational predictions currently have a minimal role in diagnosing genetic diseases, says Marsh, and recommendations from physicians’ groups say that these tools should provide only supporting evidence in linking a mutation to a disease. AI Tool Pinpoints Genetic Mutations That Cause Disease 2023-09-21T04:00:00Z Currently genetic disease hunters have fairly limited limited knowledge of which areas of human DNA can lead to disease. Google DeepMind AI speeds up search for disease genes 2023-09-19T04:00:00Z However, they said the work could open the door to new ways to test the effect of drugs on pregnancies, better understand miscarriages and genetic diseases, and perhaps even to grow transplant tissues and organs. Israeli scientists create model of human embryo without eggs or sperm 2023-09-07T04:00:00Z The hope is embryo models can help scientists explain how different types of cell emerge, witness the earliest steps in building the body's organs or understand inherited or genetic diseases. Scientists grow whole model of human embryo, without sperm or egg 2023-09-06T04:00:00Z Health warnings should be added to protein drinks after a boy died from a rare genetic disease triggered by drinking one, a senior coroner says. Protein drinks should carry warning after boy died, says coroner 2023-06-27T04:00:00Z She regularly visits communities to spread awareness of the genetic disease, but she went back to Taveta, her hometown, to help support the people there. Kenya sickle cell: Fighting to dispel the myths around the disease 2023-06-11T04:00:00Z In the 1950s, geneticists discovered the double-helix structure of DNA, information that was crucial for later advancements such as the ability to use DNA to diagnose and treat genetic diseases. World History: from 1400 2022-12-14T00:00:00Z Understanding the mechanisms of DNA replication enabled scientists to develop laboratory techniques that are now used to identify genetic diseases, pinpoint individuals who were at a crime scene, and determine paternity. Concepts of Biology 2013-04-25T00:00:00Z The regulator says that to be eligible, families must have no other available options for avoiding passing on genetic disease. Britain: 1st babies born in country using DNA from 3 people 2023-05-10T04:00:00Z Mutations linked to genetic diseases typically alter bases that the researchers found had evolved little in the past 100 million years. What Cheetahs, Armadillos and Whales Revealed About Human DNA 2023-04-27T04:00:00Z BBC Africa Eye joined a campaigner on the issue in one town in Kenya where nearly a quarter of the population lives with the genetic disease. Kenya sickle cell: Fighting to dispel the myths around the disease 2023-06-11T04:00:00Z A doctor in the nearby town of Mount Shasta, Calif., treated her trans identity as no big deal and spent time researching her genetic disease. For trans people, medical visits can be more traumatizing than healing This is one reason that genetic diseases remain in the human population at very low frequencies. Concepts of Biology 2013-04-25T00:00:00Z If the embryos had developed, they might have suffered from severe genetic diseases. Gene-editing summit touts sickle cell success, while questions on embryo editing linger 2023-03-12T05:00:00Z Children with this fatal genetic disease are born apparently healthy, but MLD gradually attacks the brain and body. The UK’s most expensive drug saved one sister, but it is too late for the other 2023-02-14T05:00:00Z Cystic fibrosis is a genetic disease that damages the lungs and digestive system. ‘Miracle’ Cystic Fibrosis Drug Kept Out of Reach in Developing Countries 2023-02-07T05:00:00Z About 6,000 rare genetic diseases affect a total of about 1 in 17 people in the UK. Motion capture tech from Avatar films used in disease research 2023-01-21T05:00:00Z In some cases in which a genetic disease is present in an individual’s family, family members may be advised to undergo genetic testing. Concepts of Biology 2013-04-25T00:00:00Z He claims that he could develop a cure for the degenerative genetic disease Duchenne muscular dystrophy – if he receives funding in excess of US$100 million. Documentary spurs a new look at the case of the first gene-edited babies 2022-12-27T05:00:00Z But hundreds of millions of others, mostly children, live with rare genetic diseases and have no treatment options. They Created a Drug for Susannah. What About Millions of Other Patients? 2022-12-19T05:00:00Z Every year, several thousand children in the UK are affected by rare genetic diseases, but families often endure years of tests and uncertainty before they receive a diagnosis. 100,000 babies to have genetic code mapped 2022-12-12T05:00:00Z The United Kingdom today announced plans to sequence the genomes of 100,000 newborns for about 200 rare genetic diseases starting next year. Sequencing projects will screen 200,000 newborns for disease genes 2022-12-12T05:00:00Z Gene therapy is a genetic engineering technique that may one day be used to cure certain genetic diseases. Concepts of Biology 2013-04-25T00:00:00Z And these are the tests that are done on your baby when your baby is born to look for genetic diseases. The tragedy of sudden infant death syndrome: A pediatrician explains how to protect your baby 2022-12-11T05:00:00Z Today’s Ashkenazi populations have high rates of certain genetic diseases because many individuals carry identical mutations, increasing the risks to their offspring. Meeting the ancestors: History of Ashkenazi Jews revealed from medieval DNA 2022-11-30T05:00:00Z She and her team had previously treated fetuses with thalassemia, a genetic disease caused by lack of hemoglobin. The Disease Took Zara, Then Sara. Could Ayla Be Saved? 2022-11-09T05:00:00Z In many countries, a drop of blood from every newborn’s heel is now screened, using mostly biochemical tests, for anywhere from a handful to dozens of genetic diseases. Sequencing projects will screen 200,000 newborns for disease genes 2022-12-12T05:00:00Z Whole genome sequencing is the latest available resource to treat genetic diseases. Concepts of Biology 2013-04-25T00:00:00Z The same is true for the human reference genomes that are routinely used for cancer care and other genetic diseases. Cancer treatment predictor may not work in patients with African and Asian ancestries 2022-10-04T04:00:00Z Asked if he had any medical conditions, he explained his alkaptonuria, a rare, progressive genetic disease that causes pain in the joints. 'We are running for our country, our people' 2022-09-28T04:00:00Z Understanding the mechanisms of DNA replication enabled scientists to develop laboratory techniques that are now used to identify genetic diseases. Biology for AP Courses 2022-06-09T00:00:00Z The project expects to find about 500 newborns with one of the genetic diseases. Sequencing projects will screen 200,000 newborns for disease genes 2022-12-12T05:00:00Z Indeed, the cause of many genetic diseases is alternative splicing rather than mutations in a sequence. Concepts of Biology 2013-04-25T00:00:00Z An important end goal eventually became using the data for applied research seeking cures for genetic diseases. Environmental Biology 2018-09-06T00:00:00Z Osteogenesis imperfecta is a genetic disease in which collagen production is altered, resulting in fragile, brittle bones. Anatomy and Physiology 2013-06-19T00:00:00Z The database provides all the information about genes for genetic diseases, their inheritance and their expression. Biology for AP Courses 2022-06-09T00:00:00Z Lambert herself needed an abortion as a young mother when the fetus was found to carry a genetic disease. A ‘sucker punch’: Some women fear setback to hard-won rights 2022-06-26T04:00:00Z These kinds of large-scale studies illuminate the frequency of various genetic diseases in all breeds, not just in the ones that were previously known to exhibit a disease. Sequencing Cat Genomes Could Help Breed Healthier Kitties 2022-06-23T04:00:00Z It will cover potentially life-saving drugs for rare and genetic diseases. Innovative Medicines Fund launched to fast-track drugs 2022-06-06T04:00:00Z The genetic disease is most well known for its damage to the lungs, causing breathing difficulties and chronic lung infections, but it also affects the liver, pancreas, and intestines. Anatomy and Physiology 2013-06-19T00:00:00Z PCR is used for many purposes in laboratories, such as the cloning of gene fragments to analyze genetic diseases, identification of contaminant foreign DNA in a sample, and the amplification of DNA for sequencing. Biology for AP Courses 2022-06-09T00:00:00Z The reasons older children need formula ranges beyond genetic diseases to structural problems such as short bowel syndrome. Baby formula shortage life-threatening for some older kids and adults 2022-06-03T04:00:00Z Cats do not have perfect genes—our furry feline pals can inherit devastating genetic diseases. Sequencing Cat Genomes Could Help Breed Healthier Kitties 2022-06-23T04:00:00Z And if those parents are related, any genetic diseases they have are much more likely to be passed on. Extinction: Why scientists are freezing threatened species in 'biobanks' 2022-05-19T04:00:00Z Other genetic diseases that are inherited in this pattern are achondroplastic dwarfism, Marfan syndrome, and Huntington’s disease. Anatomy and Physiology 2013-06-19T00:00:00Z More practical applications include the detection of genetic diseases. Biology for AP Courses 2022-06-09T00:00:00Z Such analysis can test for an abnormal number of chromosomes, certain genetic diseases, and rearrangements of large chunks of DNA, and it has become an increasingly common part of IVF treatment in the United States. Scientists say they can read nearly the whole genome of an IVF-created embryo 2022-03-21T04:00:00Z He sought help and began to reflect on the troops he had seen die overseas and the death of his younger daughter from a rare genetic disease less than a year after she was born. A general fights to destigmatize mental health issues: ‘There’s a shame if you show weakness’ 2022-03-19T04:00:00Z Gandhi, 30, is a lab technician who studies rare genetic diseases. The pandemic proved ‘shock therapy’ is an essential treatment. Will Washington improve its availability? 2022-03-05T05:00:00Z Medical researchers are especially interested in the identification of inheritance patterns for genetic disorders, which provides the means to estimate the risk that a given couple’s offspring will inherit a genetic disease or disorder. Anatomy and Physiology 2013-06-19T00:00:00Z The database provides information related to the prevention of a genetic disease. Biology for AP Courses 2022-06-09T00:00:00Z Called “molecular medicine,” it focuses on how genetic diseases develop and progress. World History: Patterns of Interaction 2012-01-01T00:00:00Z Pfizer spokeswoman Jerica Pitts said the company is working on mRNA drugs to combat respiratory diseases other than the flu and to prevent cancer and genetic diseases. Scientists struggle to break COVID-19 vaccine skepticism, dash outlandish claims 2022-02-09T05:00:00Z In many of those cases, the sperm banks said they routinely test sperm and exclude donors who could pass along genes that cause genetic diseases. Sperm donation is largely unregulated, but that could soon change as lawsuits multiply 2022-01-20T05:00:00Z The boy has been undergoing treatment in Sao Paulo for a genetic disease that requires him to wear braces on his legs. Brazil starts vaccinating children after weeks of delay 2022-01-14T05:00:00Z Still, many technological problems need to be solved for this approach to be a viable method for treating genetic disease. Biology for AP Courses 2022-06-09T00:00:00Z There are two concerns about potential unintended consequences: first, that molnupiravir could cause errors in the genome in the patient’s own cells, causing cancer, genetic diseases or birth defects. FDA advisers narrowly recommend authorization of first antiviral pill to treat covid-19 2021-11-30T05:00:00Z These highly sampled, isolated data sets, which often name specific villages, could also endanger the anonymity of individuals, especially those with rare genetic diseases, the authors argue. The DNA of Roma People Has Long Been Misused, Scientists Reveal 2021-11-17T05:00:00Z The federal government requires only that donated sperm and eggs be treated like other human tissue and tested for communicable diseases – infectious conditions that spread through viruses, bacteria and other means – but not genetic diseases. Sperm donation is largely unregulated, but that could soon change as lawsuits multiply 2022-01-20T05:00:00Z Developing a treatment for a genetic disease is often a multiyear quest. Personalized RNA drugs may soon be available for more rare genetic diseases 2021-11-03T04:00:00Z It is a genetic disease in which red blood cells are sickle-shaped, reducing oxygen perfusion into the blood. Biology for AP Courses 2022-06-09T00:00:00Z Gene-silencing has already proven effective in other rare genetic diseases such as amyloidosis. Gene silencing medicine transforms crippling pain 2021-10-20T04:00:00Z The idea of editing genes to repair genetic diseases has seemed promising for decades, but the approach failed when several young people died in clinical trials. Ancient Egypt’s Sacred Baboons, Vapor Storms and Fighting Hunger 2021-10-19T04:00:00Z The 24-year-old, who was confirmed this week as the world's tallest living female by Guinness World Records, was born with Weaver Syndrome, a rare genetic disease that causes rapid growth among other abnormalities. World's tallest woman says it's OK to stand out 2021-10-14T04:00:00Z Blind in her right eye since middle school due to a rare genetic disease in her cornea, Michishita began running marathons at 26. Tokyo Paralympic champ heads new Boston Marathon division 2021-10-09T04:00:00Z It is a genetic disease in which red blood cells are sickle-shaped, increasing oxygen perfusion into the blood. Biology for AP Courses 2022-06-09T00:00:00Z From illnesses to genetic diseases, brachycephalic dogs not only have problems — their problems are getting worse. Our smushed-faced dogs are quietly suffering for us 2021-09-26T04:00:00Z The report noted that the health consequences of many mutations are unknown, and many genetic diseases remain untreatable. Sequence every newborn’s DNA? Despite obstacles, UK pushes ahead 2021-09-22T04:00:00Z For the energetic, smiling guy, immunologist and physician Daniel Kastner, the encounter launched a more than 3-decade-long scientific quest into genetic diseases. This genetic sleuth has uncovered a new category of disease marked by sporadic fevers and inflammation 2021-09-22T04:00:00Z AstraZeneca, under the deal, has the option to collaborate on 26 drug targets for use against other therapeutic areas like cancers and rare genetic diseases. AstraZeneca invests in Imperial's self-amplifying RNA technology with eye on future drugs 2021-09-23T04:00:00Z In the human genetic disease familial hypercholesterolemia, the LDL receptors are defective or missing entirely. Biology for AP Courses 2022-06-09T00:00:00Z MacCaul says it’s especially important for people with dementia or chronic illnesses like MS, cancer, HIV, diabetes, heart conditions and genetic diseases. Plan now for long-term care costs later | Provided by Washingtonians for a Responsible Future 2021-09-20T04:00:00Z And 88% of the babies were carriers of a genetic disease, a finding that might unsettle parents even though their babies only had one of the two copies of the mutation necessary to get sick. Sequence every newborn’s DNA? Despite obstacles, UK pushes ahead 2021-09-22T04:00:00Z U.S. regulators halted the drug developer’s study of a potential genetic disease treatment to review safety concerns. PPG Industries, BioMarin fall; AMC, Callaway Golf rise 2021-09-07T04:00:00Z An army major is walking barefoot along the east coast of the USA to fund the creation of treatment for his daughter's rare genetic disease. Major walking 1,200 miles barefoot to fund daughter's treatment 2021-08-31T04:00:00Z For example, would you want to be tested for a debilitating genetic disease if there was the possibility insurance companies could use that information to deny you coverage? Biology for AP Courses 2022-06-09T00:00:00Z Many inborn errors of metabolism — genetic diseases that prevent the body from turning food into energy — are treatable. The cause of this baby’s collapse was worse than anything his parents imagined 2021-08-20T04:00:00Z Genomics England intends to follow those principles in its large pilot project, which could screen for up to 600 genetic diseases that can cause symptoms in early childhood. Sequence every newborn’s DNA? Despite obstacles, UK pushes ahead 2021-09-22T04:00:00Z The FDA wants to meet with the biotechnology company before it files for approval of a treatment for the rare genetic disease Friedreich’s ataxia. Progressive, Iovance fall; Target, Take-Two rise 2021-05-19T04:00:00Z Without disclosing specifics, he said the company is working on other vaccines for infectious diseases as well as creating a research pipeline for therapeutics for cancer and genetic diseases. Pfizer coronavirus vaccine revenue is projected to hit $26 billion in 2021 with production surge 2021-05-04T04:00:00Z This deadly genetic disease is called Sanfilippo Syndrome type B or Mucopolysaccharidosis III. Previously incurable, Biology for AP Courses 2022-06-09T00:00:00Z Despite his declining medical condition because of a rare genetic disease, this was a happy day. Behind Closed Doors, ‘the Difficulty and the Beauty’ of Pandemic Hospice Work 2021-03-29T04:00:00Z Morton, who first created the Clinic for Special Children in Strasburg, is renowned for his pioneering work on genetic diseases among Plain children. 90 percent of Plain community households hit by COVID-19 2021-03-27T04:00:00Z “For most genetic diseases, precise gene correction, rather than disruption, is needed to benefit patients,” says David Liu of the Broad Institute of the Massachusetts Institute of Technology and Harvard University. After the Nobel, what next for Crispr gene-editing therapies? 2021-02-21T05:00:00Z Before this, private labs would target and patent specific genes for research or for commercial applications such as developing drugs to treat genetic diseases. Balancing Privacy With Data Sharing for the Public Good 2021-02-19T05:00:00Z Currently, we can perform tests for many genetic diseases, but these tests create ethical and legal issues. Biology for AP Courses 2022-06-09T00:00:00Z You no longer need to study a well-funded human genetic disease in order to afford the tools to sequence and analyze DNA. The Human Genome and the Making of a Skeptical Biologist 2021-02-12T05:00:00Z Racism is a deep and persistent evil in our beloved country, like a genetic disease passed down through the generations. Impeachment trial: Good men must act 2021-01-27T05:00:00Z She had watched her brother suffer for years with a debilitating genetic disease and would do anything to help him feel better. She saved her 7-year-old brother’s life. Then the virus threatened to take it. 2020-12-07T05:00:00Z Another might encode a missing enzyme to reverse a rare genetic disease. Messenger RNA gave us a COVID-19 vaccine. Will it treat diseases, too? 2020-12-16T05:00:00Z Thalassemia is a rare genetic disease caused by a defect in either the alpha or the beta subunit of Hb. Biology for AP Courses 2022-06-09T00:00:00Z The test was developed by Ambry Genetics, a local company with expertise in genetic diseases that has converted part of its lab to produce the tests. Spit in a Tube and Mail It In: A New Frontier in Coronavirus Testing 2020-12-03T05:00:00Z Some believe it could also help scientists gain a better understanding of genetic diseases along the lines of Alzheimer’s or cystic fibrosis. London A.I. Lab Claims Breakthrough That Could Accelerate Drug Discovery 2020-11-30T05:00:00Z The ability to write our own genome will inevitably emerge, enabling doctors to cure many, if not all, genetic diseases. Whole-Genome Synthesis Will Transform Cell Engineering 2020-11-13T05:00:00Z “We believe that every day of delay is a day that we lose another child’s life because of suspected flaws or genetic diseases,” said director Karolina Pawlowska. Police warn of tougher action as thousands join abortion protests in Poland 2020-10-28T04:00:00Z Adam Nash - born in the US 20 years ago to be a donor for his six-year-old sister who suffered from Fanconi anaemia, a rare and fatal genetic disease - is considered the world's first saviour sibling. India's first 'saviour sibling' cures brother of fatal illness 2020-10-26T04:00:00Z Nora Voytko, who lives near Austin, Texas, helps care for her adult son-in-law, who is disabled due to muscular dystrophy, a genetic disease that causes progressive weakness and loss of muscle. AP-NORC poll: New angst for caregivers in time of COVID-19 2020-10-13T04:00:00Z Luxturna improves the sight of children who have a rare genetic disease causing blindness. Special Report: Big Pharma wages stealth war on drug price watchdog 2020-09-11T04:00:00Z That’s because the more varied the data, the bigger the advantage in identifying genetic disease. Special Report: COVID opens new doors for China's gene giant 2020-08-05T04:00:00Z Many genetic diseases involve mutations that introduce premature stop codons. Cystic fibrosis drugs target the malformed proteins at the root of the disease 2020-07-28T04:00:00Z Her family doctor then referred her to a neurologist in Baltimore with expertise in spinal muscular atrophy, a rare genetic disease that destroys nerve cells. A teenager’s apparent clumsiness foreshadowed a shocking diagnosis 2020-07-17T04:00:00Z Most seeking a cure for a rare genetic disease hope to recruit scientists and companies to do the work. ‘It Will Consume Your Life’: 4 Families Take On Rare Diseases 2020-07-07T04:00:00Z “While early programs focused primarily on rare genetic diseases and blood cancers, we’re already seeing the field expand into more common age-related neurological disorders, such as Parkinson’s and Alzheimer’s,” she said. IU team pursues breathtaking regenerative medicine advances 2020-05-17T04:00:00Z Gene therapy, the thinking went, would soon cure cystic fibrosis, marking a turning point in the treatment of genetic diseases. The journey from scientific breakthrough to a life-changing cystic fibrosis drug 2020-04-17T04:00:00Z Immune system deficiencies — which render the body less able to detect infection and to repel it — happen for myriad reasons, including genetic diseases, HIV and blood disorders. Federal policy says students must pick up school meals in-person. Families with susceptible children face wrenching decisions. 2020-03-23T04:00:00Z Yet the few researchers who pushed on overcame the obstacles just in time to benefit from the detailed information about genetic diseases revealed by the genomics revolution. A Breakthrough in Genetic Medicine for Rare Diseases 2020-03-23T04:00:00Z Men with an aggressive genetic disease that leads to blindness regained some of their lost vision after receiving doses of a corrective gene. Daily briefing: World’s biggest physics meeting cancelled over coronavirus fears 2020-03-01T05:00:00Z A handful of start-up companies are beginning to use RNA-editing systems to develop potential treatments for everything from genetic diseases such as muscular dystrophy to temporary maladies such as acute pain. Step aside CRISPR, RNA editing is taking off 2020-02-03T05:00:00Z It is believed to be the first custom treatment for a genetic disease because it blocks a mutation unique to Mila. What We Learned in 2019: Health and Medicine 2019-12-23T05:00:00Z And we wrap up with a special report, “The DNA Drug Revolution,” produced independently with the support of UPMC, about treating genetic diseases with genetic material itself. Introducing the January 2020 Issue 2019-12-17T05:00:00Z George Church’s dating app proposes to match users based on their DNA in an attempt to eliminate genetic diseases. Dating app based on genetic matching not eugenics, scientist says 2019-12-16T05:00:00Z The methods used differ dramatically from what is done to diagnose genetic diseases. DNA tests make fun holiday gifts, but beware of the hype 2019-12-14T05:00:00Z Javier Rodriguez was diagnosed in seventh grade with dilated cardiomyopathy, a genetic disease that predisposes victims to develop heart failure at a young age. Heart transplant patient dies after Chicago hospital wedding 2019-12-05T05:00:00Z Javier Rodriguez was diagnosed in seventh grade with dilated cardiomyopathy, a genetic disease that predisposes victims to develop heart failure at a young age. Heart transplant patient dies after Chicago hospital wedding 2019-12-05T05:00:00Z SNAs are the product of three core capabilities: the ability to make large quantities of oligonucleotides, an understanding of genetic disease pathways, and the ability to get such oligonucleotides into tissues and cells that matter. The Power of Spheres 2019-12-03T05:00:00Z There are roughly 14,000 known genetic diseases in humans, ranging from childhood-onset diseases such as PKU and congenital heart disease to adult-onset conditions such as Huntington’s disease and heritable forms of cancer. 23 and Baby 2019-12-03T05:00:00Z Researchers hope that base editors might one day be used to treat human genetic diseases — if they can overcome important hurdles. Daily briefing: Base editors fix genomes one nucleotide at a time 2019-11-18T05:00:00Z Writing in the journal Bioethics, Dr Smith said research in this area would offer hope to parents at risk of transmitting serious genetic disease to their future children. Genetically-modified babies 'ethically justified' 2019-11-18T05:00:00Z And they might one day use base editors to treat human genetic diseases. Got mutation? ‘Base editors’ fix genomes one nucleotide at a time 2019-11-17T05:00:00Z Lopez-Cardoze rallied his students and developed an organization that educates the public about genetic diseases prevalent in communities of color. This D.C. teacher of the year just won $7,500. He’s giving it back to his students. 2019-11-08T05:00:00Z The drug, described in The New England Journal of Medicine, is believed to be the first “custom” treatment for a genetic disease. Scientists Designed a Drug for Just One Patient. Her Name Is Mila. 2019-10-09T04:00:00Z As a geneticist, he was trained to study rare genetic diseases. Nobel Prize in Medicine Awarded for Research on How Cells Manage Oxygen 2019-10-07T04:00:00Z Autism is also a genetic disease; vaccines do not cause it. While Searching for the Perfect Vaccine, Keep Using the Very Good 2019-10-04T04:00:00Z More than 31,000 such mutations in the human genome are known to be associated with human genetic diseases. Got mutation? ‘Base editors’ fix genomes one nucleotide at a time 2019-11-17T05:00:00Z “Generally when we think of genetic disease, you think of a child born with it,” Novacic said. Nearly 100 doctors have tried to diagnose this man’s devastating illness — without success 2019-09-20T04:00:00Z While Ventura took “a deep dive” into understanding her daughter’s rare genetic disease, she managed her baby’s daily life as naturally as possible. Girl with rare disorder meets kids like her for first time 2019-07-14T04:00:00Z And genome editing so early in development creates a new problem: there is no way to distinguish embryos that carry the genetic disease from those that do not at the single-cell stage, cautions Jaenisch. CRISPR babies: when will the world be ready? 2019-06-18T04:00:00Z Roche wants to buy Spark to, among other things, get ahold of U.S. firm’s experimental gene therapy for hemophilia A as well as its platform to develop other treatments for genetic diseases. Roche's $4.3 billion Spark bid delayed again amid U.S., UK scrutiny 2019-06-10T04:00:00Z The technology is being studied in some countries, including Britain, as a way to halt the inheritance of genetic diseases that stem from the DNA in the mitochondria. Congress Revives Ban on Altering the DNA of Human Embryos Used for Pregnancies 2019-06-05T04:00:00Z SMA affects only a few thousand patients in the U.S., but gene therapies for hemophilia and other genetic diseases are on the horizon. Is $2.1 million Too Much for a Drug? For Affected Parents, There Is No Debate 2019-06-04T04:00:00Z The fish are also a powerful model for studying numerous genetic diseases. How a See-Through Fish Is Helping Answer Big Questions about Biology 2019-05-27T04:00:00Z Many families at risk of passing on genetic diseases tell her that, for now, they just want a way to screen their embryos for mutations. CRISPR babies: when will the world be ready? 2019-06-18T04:00:00Z But there’s also a danger that his experiments made unintended modifications in their genomes, as often happens in gene-editing experiments in the laboratory, leaving the twins vulnerable to genetic diseases. China set to tighten gene-editing laws following CRISPR-baby furore 2019-05-19T04:00:00Z M. abscessus and other bacteria often colonize the thick mucus that builds up in the lungs of people with cystic fibrosis, a genetic disease that afflicts some 80,000 people worldwide. Viruses genetically engineered to kill bacteria rescue girl with antibiotic-resistant infection 2019-05-08T04:00:00Z The genetic disease causes buildup of the cysteine amino acid in various organs and tissues in the body leading to damage, according to Cystinosis Research Network. Siblings with rare genetic disorder receive new kidneys on same day from same donor 2019-05-07T04:00:00Z Genetic diversity in horses severely declined, allowing more potentially deleterious mutations to accumulate and lead to a higher risk of genetic disease. Ancient DNA reveals two lost lineages of horses—but not their elusive origins 2019-05-02T04:00:00Z The child’s family couldn’t afford similar models for their son who suffers from mobility issues due to a rare genetic disease. Minnesota high school robotics team designs power wheelchair for 2-year-old whose family couldn't afford one 2019-04-03T04:00:00Z The genetic disease causes persistent lung infections and limits a patient’s ability to breathe. 'Five Feet Apart' star Cole Sprouse says he lost 25 pounds for role as teen with cystic fibrosis 2019-03-15T04:00:00Z Most children with severe genetic diseases are born without anyone knowing they are at risk. Scientists call for global moratorium on gene editing of embryos 2019-03-13T04:00:00Z A pair of Texas siblings born with a rare genetic disease got the call they needed recently when they found out a deceased donor could provide them both with life-changing kidneys. Siblings with rare genetic disorder receive new kidneys on same day from same donor 2019-05-07T04:00:00Z Such instances are exceedingly rare, occurring for only a small minority of genetic diseases and largely in situations in which a disease allele is present at high frequency in a population. Adopt a moratorium on heritable genome editing 2019-03-12T04:00:00Z Data show that there are more than 2,500 gene therapy trials under way right now for a range of genetic diseases. How Gene Therapy Can Reverse a Form of Congenital Blindness 2019-03-08T05:00:00Z Payne, who was diagnosed with cystic fibrosis — a genetic disease that affects the lungs and other organs — as a baby, met his country idol two years prior through the Make-A-Wish Foundation. 'American Idol' judge Luke Bryan sings duet with previous Make-A-Wish teen during audition 2019-03-07T05:00:00Z And a pair of other studies may affect research into cystic fibrosis, the genetic disease that causes lung infections and limits breathing ability. New techniques let scientists zero in on individual cells 2019-03-03T05:00:00Z There are also mental disorders that are the most severe ones that are just plain old genetic diseases: bipolar disease and autism and schizophrenia. Susceptibility to Mental Illness May Have Helped Humans Adapt over the Millennia 2019-03-01T05:00:00Z Some argue, especially in the popular press, that germline editing is urgently needed to stop children from being born with severe genetic diseases. Adopt a moratorium on heritable genome editing 2019-03-12T04:00:00Z The Hills hope to raise $1 million for an initiative they’re calling “Field of Genes,” which will provide financial and emotional support for the families of children stricken by rare genetic diseases. Clayton Kershaw has a light workout, which is seen as progress 2019-02-28T05:00:00Z Others verified gene editing’s ability to correct mutations associated with genetic disease and analysed genes important in early embryo development, including some implicated in the failure of some pregnancies. The CRISPR-baby scandal: what’s next for human gene-editing 2019-02-25T05:00:00Z “The needs of patients and families living with genetic diseases are immediate and their needs vast,” Spark Chief Executive Jeffrey Marrazzo said. Roche bets $4.3 billion on Spark in gene therapy move 2019-02-25T05:00:00Z “This would be the first genetic cure of a common genetic disease,” said Dr. Edward Benz, professor of medicine at Harvard Medical School. Sickle-cell patients dreamed of a cure; enter gene therapy 2019-01-26T05:00:00Z This isn't about looking for rare genetic diseases in people at very high risk. NHS to offer paid-for DNA tests 2019-01-26T05:00:00Z There is something particularly poignant about considering yourself lucky to have the right genetic disease. They said I'd go blind. Now gene therapy has changed that 2019-01-19T05:00:00Z Researchers are using artificial intelligence to diagnose rare genetic diseases by scanning a person’s face or a photograph, according to a study published this month. Researchers use AI facial recognition to diagnose rare diseases 2019-01-09T05:00:00Z And roughly three-quarters of Americans say gene editing probably wouldn’t be affordable for the average person — raising the specter of certain genetic diseases becoming a problem only for the poor. AP-NORC Poll: Most support gene editing to protect babies 2018-12-28T05:00:00Z Genome editing in somatic cells holds promise for treating many genetic diseases. CRISPR twins: a condemnation from Chinese academic societies 2018-12-18T05:00:00Z Most would agree that research into the origin of infertility and genetic diseases, for example, is a worthy goal and probably achievable within current ethical boundaries. Debate ethics of embryo models from stem cells 2018-12-11T05:00:00Z He tells me over Skype, “SMA is among the most common fatal genetic diseases of infancy and childhood, and it’s a condition that most people have never heard of.” They said I'd go blind. Now gene therapy has changed that 2019-01-19T05:00:00Z For rare genetic diseases that affect the young, such as a neurodegenerative condition called spinal muscular atrophy, gene therapies bring much-needed hope — a chance for the child to live a relatively normal life. Regulating the gene-therapy revolution 2018-12-11T05:00:00Z With other genetic diseases, the effects might not begin until sometime in infancy or early childhood. Prenatal gene therapy offers the earliest possible cure 2018-12-11T05:00:00Z These are now known to cause genetic disease and impact the way drugs are metabolized by individuals and ethnic populations. We Need More Diversity in Our Genomic Databases 2018-12-04T05:00:00Z Scientists are investigating the use of CRISPR-Cas9 as a treatment for individuals suffering from genetic diseases, such as muscular dystrophy and sickle cell disease. CRISPR bombshell: Chinese researcher claims to have created gene-edited twins 2018-11-26T05:00:00Z In October last year, MacLaren successfully completed the world’s first gene therapy trial for one such condition, called choroideremia, as part of the largest late-stage trial ever for any genetic disease. They said I'd go blind. Now gene therapy has changed that 2019-01-19T05:00:00Z The reason for this boils down to the fact that cancer is a genetic disease, and right now we can’t physically change the human genome. We can detect and treat it better than ever, but preventing cancer is still far out of reach 2018-10-27T04:00:00Z It could be the best way to treat a select group of devastating genetic diseases — and perhaps the only way to achieve a lasting cure. Prenatal gene therapy offers the earliest possible cure 2018-12-11T05:00:00Z For children and families facing an extremely rare genetic disease, getting a diagnosis is a crucial first step. Daily briefing: Why potentially useful human genes are being ignored by science 2018-09-18T04:00:00Z Medical journals have documented cases in which clusters of offspring have found each other while seeking treatment for the same rare genetic disease. Her 44 siblings came from one donor’s sperm. Here’s how. 2018-09-12T04:00:00Z This has huge implications when it comes to the propagation of new genetic diseases – and for how we think about preventive treatment. They said I'd go blind. Now gene therapy has changed that 2019-01-19T05:00:00Z Cancer is a genetic disease brought on by the accumulation of mutations. We can detect and treat it better than ever, but preventing cancer is still far out of reach 2018-10-27T04:00:00Z Early data from the first clinical trial to edit genes in the body suggest that the approach can be safe, and that it might work to treat a rare genetic disease called Hunter syndrome. Thursday briefing: Just Google it 2018-09-05T04:00:00Z The Lisbon, Portugal-based Champalimaud Foundation’s annual Vision Award was given Tuesday for work on the treatment of children blinded from birth by genetic disease. Researchers win prize for restoring children’s eyesight 2018-09-04T04:00:00Z By creating organoids from people with a genetic disease that causes autism and epilepsy, he was able to watch how brain cells migrate during early development. Lab-grown brain bits open windows to the mind — and a maze of ethical dilemmas 2018-09-02T04:00:00Z Gene therapy administered in the womb could be used to treat a deadly genetic disease, a study in fetal mice suggests. Gene therapy in mouse fetuses treats deadly disease 2018-07-15T04:00:00Z Few, however, bring the intimate knowledge that Brower has of living with CF – a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. Mariners assistant pitching coach Jim Brower in the front line in the battle against cystic fibrosis 2018-07-01T04:00:00Z This little boy in Lawrenceville has Hunter syndrome, a rare genetic disease with only about 500 cases in the United States and 2,000 around the world. Parents race against time to try and save their son Easton 2018-07-01T04:00:00Z The overall goal is to eradicate genetic diseases, but it offers the potential to choose or introduce specific genes for certain traits. ‘Designer babies’ offer miracle cures, questionable ethics 2018-06-14T04:00:00Z “Many genetic diseases are relatively straightforward at the molecular level,” says Ronald Wetzel, a structural biologist at the University of Pittsburgh in Pennsylvania. Piecing together the puzzle of Huntington’s disease 2018-05-29T04:00:00Z Chief among them is the potential to minimize the damage caused by a genetic disease. Gene therapy in mouse fetuses treats deadly disease 2018-07-15T04:00:00Z Optimists anticipated an era in which all genetic diseases would be eradicated. Are We Really Prepared for the Genetic Revolution? 2018-05-27T04:00:00Z They were diagnosed with a rare genetic disease called Leber hereditary optic neuropathy. Special glasses help legally blind twin brothers see again 2018-05-26T04:00:00Z Fields, 8, suffers from cystic fibrosis, a genetic disease that causes persistent lung infections and limits the ability to breathe over time, according to the Cystic Fibrosis Foundation website www.cff.org. 8-year-old Marshall basketball fan ‘signs’ with the Herd 2018-05-20T04:00:00Z That’s how children with autoimmune lymphoproliferative syndrome, or ALPS, an extremely rare and sometimes deadly autoimmune genetic disease, are now often thriving. Viagra and many other drugs were discovered by chance. Now science is hoping to change that. 2018-05-11T04:00:00Z The results could add to the increasingly popular notion of prenatal gene therapy as a way to minimize the damage wrought by some genetic diseases. Gene therapy in mouse fetuses treats deadly disease 2018-07-15T04:00:00Z “People should be able to learn about their ancestors and relatives and about possible risks for genetic diseases without fear that their data will be shared with the cops without their consent.” Police used genealogy sites to match DNA of Golden State Killer suspect 2018-04-26T04:00:00Z The genetic disease affects about 1 in 20 million people. Kids with rare rapid-aging disease get hope from study drug 2018-04-24T04:00:00Z Excellent writing on all levels, and combined with the rich photography it's a totally human picture of a genetic disease. Infinitesimal Odds: A Scientist Finds Her Child’s Rare Illness Stems From the Gene She Studies 2018-04-23T04:00:00Z In order to use the services of a sperm bank, families must prove the would-be father is infertile or carries a genetic disease. China sperm bank demands party loyalty 2018-04-06T04:00:00Z She also urged that Mimi be tested for cystic fibrosis, a genetic disease that causes persistent lung infections. Why did a little girl have a persistent ‘smoker’s cough’? 2018-03-30T04:00:00Z They started talking about studying complex genetic diseases ‘in a dish’ and replacing failing organs and tissues in the same the way that mechanics replace car parts. How human embryonic stem cells sparked a revolution 2018-03-19T04:00:00Z We have 6 generations who have had this genetic disease: my great grandmother, grandmother, aunt, mother, me, my daughter, my 11-year-old grandson. Why Was This Teenager Bleeding So Excessively? 2018-03-13T04:00:00Z Prosecutors said Aegerion’s sales representatives sought access to patients’ information to identify patients who lacked the genetic disease but whom the company saw as potentially suitable for treatment with Juxtapid. Doctor admits disclosing patient info to drugmaker Aegerion 2018-02-28T05:00:00Z As someone whose life has been impacted in ways big & small by a rare genetic disease, I have learned that one must play the hand one has been dealt & make the most of it. Opinion | Am I Going Blind? 2018-02-23T05:00:00Z The rare genetic disease affects up to 12,000 Americans, most of whom... Drugmaker Raises U.S. Price of Muscular-Dystrophy Treatment 2018-01-18T05:00:00Z They are not rare: one in 25 children is born with a genetic disease. Gene editing – and what it really means to rewrite the code of life 2018-01-15T05:00:00Z Muscular dystrophy actually refers to a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles. Morgan Hoffmann returns to the PGA Tour happy and grateful after revealing his MS battle - Golf Digest 2018-01-09T05:00:00Z Prosecutors said Aegerion’s sales representatives sought access to patients’ information to identify patients who lacked the genetic disease but whom the company saw as potentially suitable for treatment with Juxtapid. Doctor admits disclosing patient info to drugmaker Aegerion 2018-02-28T05:00:00Z Crispr’s “DNA scissors” allow scientists to precisely target and edit pieces of genome and it’s already showing immense promise for tackling genetic diseases. Forget Juicero, here are the tech gadgets we can actually get excited about in 2018 2017-12-28T05:00:00Z Being able to link genetic information to geographic origins helps medical researchers design studies that consider how and why a person, or a group of people, may be affected by certain genetic diseases. Irish Ancestry Surprises Revealed by New DNA Map 2017-12-14T05:00:00Z For some genetic diseases this may not matter, but it may if a single mutated gene causes the disorder. Gene editing – and what it really means to rewrite the code of life 2018-01-15T05:00:00Z “For instance, a new, potentially promising approach to treating cancers and genetic diseases was pioneered by students during their graduate training at Harvard and Berkeley.” Graduate students argue against taxing tuition waivers 2017-12-03T05:00:00Z CITATION: For elucidating the sophisticated mechanism that mediates the perilous separation of duplicated chromosomes during cell division and thereby prevents genetic diseases such as cancer. Cutting-Edge Science Honored by Star-Studded Breakthrough Prize Awards 2017-12-03T05:00:00Z Biotech companies have exciting plans to introduce treatments that may be transformative, sometimes curing genetic diseases with a single treatment. Gene Therapy Hits a Peculiar Roadblock: A Virus Shortage 2017-11-27T05:00:00Z For the time being, he says he's continuing to study the procedure in two clinical trials that involve genetic diseases. Genetically modified skin grown from stem cells saved a 7-year-old boy’s life 2017-11-08T05:00:00Z A 7-year-old who lost most of his skin to a rare genetic disease has made a dramatic recovery after receiving an experimental gene therapy, researchers announced today. A boy with a rare disease gets new skin, thanks to gene-corrected stem cells 2017-11-08T05:00:00Z The boy had escaped war-ravaged Syria with his parents, and a rare genetic disease had left him with raw, blistering sores over 80 percent of his body. Massive Skin Replacement Saves Child's Life 2017-11-08T05:00:00Z This type of generational information is extremely valuable for tracking the roots of genetic disease—and Steele thought it could potentially allow Geisinger to reengineer medical care. Is health care ready for routine DNA screening? A massive new trial will find out 2017-10-26T04:00:00Z This flaw is especially problematic because tens of thousands of genetic diseases are results of such point mutations. Gene editing takes another step forward 2017-10-25T04:00:00Z But before ABE can be tried in human patients, Liu says, doctors would need to determine when to intervene in the course of a genetic disease. New Gene-Editing 'Pencil' Erases Disease-Causing Errors 2017-10-25T04:00:00Z The potential applications might someday include allowing doctors to detect genetic diseases by scanning a patient’s face. Using DNA to Sketch What Victims Look Like; Some Call It Science Fiction 2017-10-19T04:00:00Z Should Americans be allowed to edit their DNA to prevent genetic diseases in their children? Gene Editing Is Here, and Desperate Patients Want It 2017-10-12T04:00:00Z Over time, new clinical trials began to show promise, and pharmaceutical companies became more interested in developing treatments for rare genetic diseases. FDA advisers back gene therapy for rare form of blindness 2017-10-11T04:00:00Z Being taken seriously and accepted as a human being and not pointed as ‘a woman’ for whatever it is I am doing, like as if it was some kind of genetic disease. Readers Speak Out on Goals and Challenges of Women Today 2017-10-10T04:00:00Z Case in point: one of my three sons was born with a devastating genetic disease. Opinion | A Health Care Plan That’s Universal and Bipartisan 2017-10-09T04:00:00Z “It highlights the fact that these medicines can really be transformative, turning off production of genetic disease.” Experimental Drug That Mutes Defective Genes Raises New Hopes 2017-10-05T04:00:00Z It prides itself in accepting only 1% of donors and on testing for more genetic diseases than any other bank. The business of sperm banks 2017-09-14T04:00:00Z Just as genomes can be used to build up a picture of faces, so facial features are able to reveal genetic diseases. Researchers produce images of people’s faces from their genomes 2017-09-06T04:00:00Z “There is widespread interest in using CRISPR, which allows the targeted editing of specific genes, to potentially end genetic disease in humans,” Vice reported in December 2015 . Perspective | Five myths about gene editing 2017-08-24T04:00:00Z Muscular dystrophy is a group of genetic diseases characterized by progressive weakness and degeneration of muscles that control movement. Lewis’ MDA telethons were full of emotion, star appearances 2017-08-20T04:00:00Z Dicerna Pharmaceuticals, meanwhile, is preparing to enter the clinic with an RNAi drug that treats primary hyperoxaluria—a rare genetic disease that causes the overproduction and buildup of substances called oxalates in the urine. Experimental Drug That Mutes Defective Genes Raises New Hopes 2017-10-05T04:00:00Z “We just do them one by one until we get the whole set,” he says, referring to the roughly 6,000 known genetic diseases. China’s embrace of embryo selection raises thorny questions 2017-08-15T04:00:00Z In many poor countries, expensive antenatal tests to identify genetic diseases are not available. Researchers produce images of people’s faces from their genomes 2017-09-06T04:00:00Z Ending genetic disease is a worthy goal, but an extremely complicated one that will require more than eliminating heritable disease. Perspective | Five myths about gene editing 2017-08-24T04:00:00Z Yet the lack of sales for the two drugs already launched to treat ultra-rare diseases in Europe highlights the hurdles ahead for drugmakers in marketing new, extremely expensive products for genetic diseases. Gene Therapy Is Now Available, but Who Will Pay for It? 2017-08-08T04:00:00Z But without clinical trials, it’s impossible to say what the risks and the benefits of the procedure truly are for people trying to avoid passing a genetic disease to their children. The 'three-parent baby' fertility doctor needs to stop marketing the procedure, FDA says 2017-08-05T04:00:00Z “The idea that scientists are playing god is always a theme,” says Natasha Bonhomme, chief strategy officer at Genetic Alliance, a lobbying group in Washington DC that focuses on genetic diseases. China’s embrace of embryo selection raises thorny questions 2017-08-15T04:00:00Z It is reckoned that 30-40% of genetic diseases cause changes to the shape of the face or skull, allowing, in some cases, experienced doctors to diagnose a condition simply by looking at a patient’s face. Researchers produce images of people’s faces from their genomes 2017-09-06T04:00:00Z A more recent headline from Wired cheered that “CRISPR may cure all genetic disease — one day.” Perspective | Five myths about gene editing 2017-08-24T04:00:00Z U.S. regulators warned a New York fertility doctor to stop marketing an experimental procedure that uses DNA from three people - a mother, a father and an egg donor - to avoid certain genetic diseases. Doctor told to stop marketing 3-person baby technique 2017-08-04T04:00:00Z The UK has approved a similar mitochondrial replacement technique, but only in attempts to prevent the child from inheriting a genetic disease. The 'three-parent baby' fertility doctor needs to stop marketing the procedure, FDA says 2017-08-05T04:00:00Z U.S. regulators warned a New York fertility doctor to stop marketing an experimental procedure that uses DNA from three people — a mother, a father and an egg donor — to avoid certain genetic diseases. Doctor told to stop marketing 3-person baby technique 2017-08-04T04:00:00Z They have published a series of studies using facial-recognition algorithms that were trained with photos of African, Asian and Latin American patients to identify different genetic diseases with accuracies of more than 90%. Researchers produce images of people’s faces from their genomes 2017-09-06T04:00:00Z If the aim of an edit is to fix a genetic disease, such mosaicism risks nullifying the effect. Researchers get better at tweaking the genomes of human embryos 2017-08-02T04:00:00Z The study results don’t mean that editing human embryos to correct genetic diseases will be available at hospitals anytime soon. Scientists Use CRISPR to Fix Genetic Disease in Embryos 2017-08-02T04:00:00Z Last year experts recommended that mitochondrial replacement therapies also be allowed in the US to prevent genetic diseases, under very specific conditions. The 'three-parent baby' fertility doctor needs to stop marketing the procedure, FDA says 2017-08-05T04:00:00Z Charlie suffered from a rare genetic disease, mitochondrial depletion syndrome, which left him brain damaged and unable to move his limbs or breathe unaided. The Latest: UK hospital offers condolences for Charlie Gard 2017-07-28T04:00:00Z Charlie suffered from a rare genetic disease, mitochondrial depletion syndrome, which caused brain damage and left him unable to breathe unaided. Family spokeswoman: British baby Charlie Gard has died 2017-07-28T04:00:00Z A British judge is set to rule on where Charlie Gard, a baby with a rare genetic disease, will spend the last days of his life. The Latest: Parents concede baby Charlie dying in hospice 2017-07-26T04:00:00Z Pope Francis and President Trump both weighed in gently on the case of a British infant with an extremely rare genetic disease. Chris Christie, Israel, July 4: Your Monday Evening Briefing 2017-07-03T04:00:00Z Then I started to hear from people with genetic diseases in their family – this is now happening every day for me. Jennifer Doudna: ‘I have to be true to who I am as a scientist’ 2017-07-02T04:00:00Z Charlie suffered from a rare genetic disease, mitochondrial depletion syndrome, which left him brain damaged and unable to move his limbs or breathe unaided. The Latest: UK hospital offers condolences for Charlie Gard 2017-07-28T04:00:00Z At the age of 2, Steven Jenkins was diagnosed with cystic fibrosis, a progressive genetic disease that causes persistent lung infections and limits a person’s ability to breathe. After 2 lung transplants, 1 brain tumor and 15 years of hardship, Seattle U student earns a degree 2017-06-11T04:00:00Z The 7-year-old Gainesville girl has spinal muscular atrophy, a genetic disease that weakens her muscles. Girl given remodeled room, handicap-accessible van 2017-06-10T04:00:00Z “Either the enzyme is acting at near optimal efficiency or something fishy is going on here,” tweeted Matthew Taliaferro, a postdoctoral fellow at MIT who studies gene expression and genetic disease. CRISPR controversy raises questions about gene-editing technique 2017-06-03T04:00:00Z And of course we may carry the genes for most of these genetic diseases without the diseases showing up at all. Opinion | What are our genes really telling us? The answer is far from clear 2017-05-24T04:00:00Z Pope Francis praised scientists working on treatments for genetic diseases on Thursday but condemned any use of human embryos in medical research. Pope tells geneticists that destroying embryos is unjustifiable 2017-05-18T04:00:00Z Summit is now running phase II clinical tests of a small-molecule drug aimed at boosting protein production to treat Duchenne muscular dystrophy, a rare genetic disease. Therapeutic developments: Masters of medicine : Nature : Nature Research 2017-05-16T04:00:00Z Sufferers of the rare genetic disease lack an enzyme that breaks down sugar molecules called glycosaminoglycans. Washington program allows with disabilities to play baseball 2017-05-14T04:00:00Z I say was because he passed away a few years ago due to some rare genetic disease. After Knee or Hip Replacement, No Place Like Home 2017-04-24T04:00:00Z Cystic fibrosis is a genetic disease that targets the exocrine glands and is characterized by the chronic accumulation of thick mucus affecting breathing and digestion. After lung transplant wait, woman exhales _ without coughing 2017-04-24T04:00:00Z Her goal is to develop federal billing codes that could help track the prevalence of her daughter’s genetic disease. Big pharma is “getting away with murder”: Drugmakers help turn patients with rare diseases into D.C. lobbyists 2017-04-16T04:00:00Z He had inherited a genetic disease that led to a kidney transplant in the early 1990s. Richmond kidney recipient thriving 5 years after transplant 2017-04-09T04:00:00Z “I was searching for genetic diseases that might be missed on an autopsy,” McPherson said. Marshfield lab aims to unlock miscarriage mysteries 2017-04-03T04:00:00Z “But there were no issues of fact. He didn’t say, ‘Aging isn’t a genetic disease,’ or ‘Google will never fund this.’ Silicon Valley’s Quest to Live Forever 2017-03-27T04:00:00Z Cancer is largely a genetic disease, in which a medley of mutations accumulates to the point that a few cells reach a state of unchecked growth. Debate reignites over the contributions of ‘bad luck’ mutations to cancer 2017-03-23T04:00:00Z In December, British officials approved the “cautious use” of the techniques, which are intended to prevent women from passing on fatal genetic diseases to their children. UK grants 1st license to make babies using DNA from 3 people 2017-03-16T04:00:00Z The advanced form of IVF will be used to prevent children dying from genetic diseases. Three-person baby licence granted - BBC News 2017-03-16T04:00:00Z At one point, he gestured toward a young woman in the gallery who has a different genetic disease, saying the agency's sluggish pace blocked treatments from reaching desperately ill patients like her. Trump calls the FDA ‘slow and burdensome,’ but it’s faster than ever 2017-03-02T05:00:00Z The only exception, endorsed by parliament in 2015, is for a procedure called mitochondrial transfer, which aims to prevent women from passing on genetic diseases to their children. Major report prepares ground for genetic modification of human embryos 2017-02-14T05:00:00Z Three years ago, when I set up my lab at Vanderbilt, I saw the potential of the biobank for studying both genetic diseases and human evolution. What Did Neanderthals Leave to Modern Humans? Some Surprises 2017-01-20T05:00:00Z Anas was born with craniofacial fibrous dysplasia, a genetic disease that affects the shape of bones and their development. Disabled Syrian beats adversity by running German NGO - BBC News 2017-01-13T05:00:00Z Most of the genetic diseases deciphered to date have been linked to mishaps in one or another protein recipe. A Family’s Shared Defect Sheds Light on the Human Genome 2017-01-09T05:00:00Z Patient advocates cheered the new drug, made by Sarepta Therapeutics in Cambridge, Massachusetts — one of only a few treatments for the devastating genetic disease. Gene-edited cows, rogue clinics, speedier drug approvals: The challenges facing Trump's FDA chief 2017-01-05T05:00:00Z It is to prevent children being born with deadly genetic diseases. Five of this week's family stories you may have missed - BBC News 2016-12-16T05:00:00Z Thousands of patients at Vanderbilt consented to have their blood and their medical records deposited in a “biobank” to find genetic diseases. What Did Neanderthals Leave to Modern Humans? Some Surprises 2017-01-20T05:00:00Z The historic and controversial move is to prevent children being born with deadly genetic diseases. Babies made from three people approved in UK - BBC News 2016-12-15T05:00:00Z The technique prevents babies being born with deadly genetic diseases. 'Three-person baby' decision awaited - BBC News 2016-12-14T05:00:00Z “Large-scale efforts like studies of rare genetic diseases, the building of large facilities, are areas that multinational collaborations do much better,” said Venki Ramakrishnan, a Nobel Prize-winning biologist and president of Britain’s prestigious Royal Society. Brexit uncertainties threaten brain drain for UK science 2016-12-11T05:00:00Z But the downside of consanguineous marriage is a relatively high risk for recessive genetic diseases, which develop when both the maternal and paternal copy of a gene are faulty. Saudi gene hunters comb country's DNA to prevent rare diseases 2016-12-08T05:00:00Z Further testing revealed that he had hereditary hemochromatosis, a genetic disease that causes the body to absorb and store too much iron, causing organ damage. Five simple steps to avoid becoming a medical mystery 2016-12-02T05:00:00Z Hundreds of millions of dollars may be at stake, as the technology promises commercial applications in treating genetic diseases, engineering crops, and other areas. U.S. patent agency to weigh rival claims on gene-editing technology 2016-12-05T05:00:00Z Paxton Hruby was diagnosed in October with the genetic disease that causes progressive weakness and loss of muscle mass. Firefighters to help South Dakota boy with muscle disease 2016-12-03T05:00:00Z This means, they say, that these recordings might allow researchers to use their ears, along with their eyes, to identify protein patterns indicative of genetic diseases like Alzheimer’s. Listen to the music of proteins folding 2016-11-18T05:00:00Z Beyond the practical payoff of diagnosing genetic diseases, the Saudi team is excited by the science it's generating. Saudi gene hunters comb country's DNA to prevent rare diseases 2016-12-08T05:00:00Z There will also be genetic testing, the extent of which depends on your ethnicity: Ashkenazi Jews are tested for by far the greatest number of genetic diseases. 10 Things to Know About Being a Sperm Donor 2016-11-03T04:00:00Z MyGene2, a web portal created by researchers at the University of Washington in Seattle, enables the sharing of genetic-sequencing and medical data across families, physicians and researchers, with the goal of tackling rare genetic diseases. Geneticists should offer data to participants 2016-10-31T04:00:00Z It is a genetic disease where cysts grow on kidneys, eventually destroying them. My Wife’s Mother Needed a Kidney, and I Was a Match 2016-10-31T04:00:00Z Several years ago, scientists demonstrated a way to reprogram an enzyme called Cas9 in the Crispr system to enable the editing of genes—opening up the potential to someday cure genetic diseases. A Genetic ‘Chain Saw’ to Target Harmful DNA 2016-10-21T04:00:00Z Such a compulsory national test for that many genetic diseases would be "unparalleled in scale," says Stephen Kingsmore, a geneticist at Rady Children's Hospital in San Diego, California. Saudi gene hunters comb country's DNA to prevent rare diseases 2016-12-08T05:00:00Z The same kinds of mechanisms operate in human cells — and are sometimes involved in genetic disease. Medicine Nobel for research on how cells 'eat themselves' 2016-10-02T04:00:00Z News broke this week of what may be the first baby created using a controversial genetic technique in order to avoid transmission of a potentially fatal genetic disease. Top stories: A baby with three parents, 3D-printed bones, and reviving extinct species 2016-09-30T04:00:00Z That’s certainly true for Colton Sunderland, 2, of Decatur who was diagnosed in utero with a genetic disease called tuberous sclerosis complex. EXCHANGE: Museum opens door to greater inclusiveness 2016-09-30T04:00:00Z The working group will focus on the implications of using gene editing to address genetic diseases, says Yeung. UK bioethicists eye designer babies and CRISPR cows 2016-09-29T04:00:00Z News broke today of what is believed to be the first baby created using a controversial genetic technique to avoid transmission of a potentially fatal genetic disease. Unanswered questions surround baby born to three parents 2016-09-27T04:00:00Z Such "three-parent" techniques can allow women who carry severe genetic diseases of the mitochondria part of a cell to prevent passing conditions onto their children while maintaining a biological relationship. 'Three-Parent' Baby Born 2016-09-27T04:00:00Z The treatment is aimed at parents who have a high risk of passing on debilitating and even fatal genetic diseases to their children. World's first baby born using DNA from three parents 2016-09-27T04:00:00Z Vision problems and genetic diseases are also grounds for disqualification. End of China's One-Child Policy Puts Pressure on Sperm Banks 2016-09-21T04:00:00Z The Food and Drug Administration on Monday approved the first drug to treat Duchenne muscular dystrophy, a rare and devastating genetic disease that causes patients to lose control of their muscles. Controversial Drug OKd for Duchenne Muscular Dystrophy 2016-09-19T04:00:00Z Harth told me that depression and light sensitivity are not necessarily linked: children with xeroderma pigmentosum, the genetic disease, generally “enjoy their lives—they love their mommies and daddies.” A Decade Lived in the Dark 2016-09-19T04:00:00Z In theory, they should enable therapies for dozens of genetic diseases. Spherical RNA therapy shows promise against psoriasis in first human trial 2016-08-29T04:00:00Z Some hope to rid infants of devastating genetic diseases, while others are concerned about targeting physical or personality traits that are merely not prefered, like a certain hair color or gender. What Ever Happened to Cloning? 2016-08-04T04:00:00Z The infants exhibit symptoms of Type 1 spinal muscular atrophy, the most severe form of a rare genetic disease that impairs movement. Positive results halt Biogen, Ionis trial of SMA drug 2016-08-01T04:00:00Z Wyatt Gillette suffered from Aicardi-Goutières syndrome, a rare genetic disease that caused his kidneys to fail and left him with several other debilitating conditions. Boy dies day after becoming honorary Camp Pendleton Marine 2016-08-01T04:00:00Z Kenneth Hobby is president of CureSMA, a group founded by families affected by spinal muscular atrophy, a genetic disease that affects voluntary muscle movement. New Voices in Medical Advocacy Often Are Patients 2016-07-25T04:00:00Z She was diagnosed with spinal muscular atrophy, a rare genetic disease that involves the withering of the nerve cells in the spinal cord that govern muscle movement. Disability advocate drowns strapped to wheelchair in Sacramento River: 'There was no reviving her' 2016-07-05T04:00:00Z Coroner Brent Blue says the Jackson Hole High School student died of hypertrophic cardiomyopathy, a genetic disease of the heart muscle. Coroner: Teen found near hiking trail died of natural causes 2016-06-17T04:00:00Z Since then, he has focused on understanding the effects of a particular kind of genetic disease which can cause blindness, heart failure and, ultimately, death. Birthday honours: Mitochondrial disease doctor recognised - BBC News 2016-06-10T04:00:00Z Currently, infants with suspected rare genetic diseases typically undergo a large number of tests. New Test Helps Identify Rare Genetic Diseases in Newborns 2016-05-30T04:00:00Z Their quest to discover why the lambs died ultimately helped advance research into Tay-Sachs, a genetic disease that affects humans as well as animals. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z Cancer is, of course, a genetic disease at its core. The Improvisational Oncologist 2016-05-12T04:00:00Z The passages that describe patients with genetic diseases are full of the compassion that we would all wish from our doctors. Genetics: On the heredity trail : Nature : Nature Publishing Group 2016-05-10T04:00:00Z By latest count, 1.2 million people in 140 countries are playing research games online that tackle quantum physics, analyze protein structures, test breast-cancer tumors or investigate genetic diseases. Videogamers Are Recruited to Fight Tuberculosis and Other Ills 2016-05-03T04:00:00Z Eteplirsen is an injectable drug intended to treat a subset of patients with Duchenne muscular dystrophy, a fatal genetic disease that causes increasing muscle weakness and eventually the loss of basic movement. Muscular dystrophy drug falls short at high-stakes meeting 2016-04-25T04:00:00Z The total loss of protein-coding genes, even those with the potential to confer genetic diseases, can be tolerated. Health and population effects of rare gene knockouts in adult humans with related parents | Science 2016-04-21T04:00:00Z Adult-onset diabetes, for example, is a complex genetic disease, but it appears to be dominated by variations in only about a dozen genes. The Improvisational Oncologist 2016-05-12T04:00:00Z Beyond egg freezing, most patients seeking reproductive technology procedures do so to identify genetic diseases, but some are turning to the technology to choose the gender of their child, fertility specialists say. Turning to technology when nature isn’t enough for pregnancy 2016-04-09T04:00:00Z For scientists using bioinformatics to explore the origins of genetic disease, Africa holds a unique place as the cradle of humanity - and therefore the repository of our oldest genetic information. The 'next Einstein'? She's from Africa - BBC News 2016-04-02T04:00:00Z Prospective parents will then be asked what they want to be told about each embryo – serious early onset genetic diseases, other diseases, cosmetic traits, behaviours, and, easiest but important to many: gender. Who needs sex to make babies? Pretty soon, humans won’t | Henry Greely 2016-04-01T04:00:00Z The total loss of protein-coding genes, even those with the potential to confer genetic diseases, can be tolerated. Health and population effects of rare gene knockouts in adult humans with related parents | Science 2016-04-21T04:00:00Z Compared with other genetic diseases, a disproportionate number of patients with sickle cell rely on Medicaid, the federal-state health program for low-income people. Our healthcare system abandons adult sickle cell patients 2016-03-21T04:00:00Z Despite relying on a daily cocktail of medicines to survive due to a life-threatening genetic disease, Daniil was struck off Russia’s disability register in October, leaving his family to pay for his treatment themselves. Russia's new disability rules prompt outrage as 500,000 lose benefits 2016-03-18T04:00:00Z Hemophilia is a genetic disease that prevents blood from clotting normally, leading to an increased risk of serious bleeding. Review Finds Mixed Success With Hemophilia Treatment 2016-03-16T04:00:00Z If the new treatment works, it could offer a way to halt progression of this genetic disease — an awful neurodegenerative disorder that attacks mainly the brain. Support communities involved in disease studies 2016-03-07T05:00:00Z Dr. Broder recalled one instance in which it took him a day to understand the intricacies of a genetic disease. A Biotech Evangelist Seeks a Zika Dividend 2016-03-05T05:00:00Z Sunset Ride: France's Patagonia 4 Barth Team, shown near Punta Dungenes, is raising money for research into the genetic disease Barth syndrome. The grueling Patagonian Expedition Race in Chile 2016-02-25T05:00:00Z Even if gene editing were safe, effective and everyone opted to use it, it would not eliminate genetic diseases, because researchers still have a long way to go to understand the genes involved. Should you edit your children’s genes? 2016-02-22T05:00:00Z The gold rush underlying the patent battle arises from its potential for reducing the time, complexity and cost of research and development on remedies for genetic disease and on genetically modified plants and animals. A case of big money shaping science 2016-02-05T05:00:00Z Cystic fibrosis is a life-threatening genetic disease that destroys the lungs and digestive system. Cystic Fibrosis Drug Seems OK for Preschoolers: Study 2016-01-25T05:00:00Z Cancer is a genetic disease caused by mutations in our DNA that lead to cells dividing uncontrollably. Sisters help launch cancer study aiming to end chemotherapy - BBC News 2016-01-20T05:00:00Z Scientists hail its potential for treating genetic diseases, such as sickle cell anemia, and engineering crops. U.S. patent agency to decide inventor of powerful gene editing technology 2016-01-12T05:00:00Z But gene therapy — the idea of curing a genetic disease by inserting the correct gene into damaged cells — is making a comeback. Gene Editing Offers Hope for Treating Duchenne Muscular Dystrophy, Studies Find 2015-12-31T05:00:00Z It raises the prospect of similar methods being used to treat a whole range of genetic disease. Breakthroughs galore: A transformative year in medicine - BBC News 2015-12-28T05:00:00Z But whether germline editing is the best way to prevent the transmission of genetic diseases occupied much of the summit discussions. Inside the summit on human gene editing: A reporter’s notebook 2015-12-04T05:00:00Z "The truth is, if we really care about avoiding cases of genetic disease, germline editing is not the first, second, third, or fourth thing we should be thinking about," he said. Genetic Revolution Brings Challenges, Controversy 2015-12-02T05:00:00Z Juno cuts that process to just three hours, freeing scientists to concentrate on actual analysis—a shift that makes it easier to match bone-marrow donors, find cures for genetic diseases and more. The 25 Best Inventions of 2015 2015-11-19T05:00:00Z The therapies in the pipeline are mostly for rare genetic diseases: sickle cell, hemophilia or immune deficiency. Gene therapies offer dramatic promise but shocking costs 2015-11-11T05:00:00Z Jolie's case involved a single gene, BRCA1, that markedly increased the risk of a specific disease, but the risks of developing genetic diseases are usually much more complicated than that. Collaborations: Mining the motherlodes : Nature : Nature Publishing Group 2015-11-03T05:00:00Z The group’s statement, however, did not permanently rule out such gene editing of the germline, presumably to prevent the transmission of genetic disease from a parent to child. Inside the summit on human gene editing: A reporter’s notebook 2015-12-04T05:00:00Z In it, Makin sorts through the explosion of recent research showing that autism is primarily a genetic disease and discusses how these findings are beginning to open the door to new therapies. A World of What-ifs 2015-10-15T04:00:00Z There are also several genetic diseases caused by the inability of cells to fix DNA properly, for instance, and work on the repair methods aids understanding of these ailments and how to treat them. Discovery of DNA Repair Methods Nails 2015 Chemistry Nobel Prize 2015-10-07T04:00:00Z A computational biologist at the University of Chicago, Novembre's work has shed new light on the study of human evolution, migration and the cause of the genetic diseases. The list of 24 MacArthur Foundation 'genius grant' award winners for 2015 2015-09-29T04:00:00Z A computational biologist at the University of Chicago, Novembre’s work has shed new light on the study of human evolution, migration and the cause of the genetic diseases. The list of ‘genius grant’ award winners 2015-09-29T04:00:00Z The genetic disease is characterized by immune cells that do not properly destroy infected or damaged cells, resulting in an agitated system that attacks other immune cells, organs and tissue. Damascus QB Julian Kinard battles rare blood disorder to lead state title contending football team 2015-09-24T04:00:00Z The child was diagnosed with TK2- related mitochondrial DNA depletion syndrome, a genetic disease where proteins that help decode DNA break down. Family carves out its own path in fight against 4-year-old’s rare disease 2015-09-04T04:00:00Z Frey was frustrated with how little was known about the causes of genetic diseases, and the lack of treatments. Meet Deep Genomics, a start-up bringing the power of deep learning to genomics 2015-07-22T04:00:00Z Cystic fibrosis is a genetic disease that causes serious lung and digestive problems. Cystic Fibrosis Might Be Deadlier for Hispanics, Study Suggests 2015-06-30T04:00:00Z We need to explore its potential to avert the horrors of genetic diseases but do so without jeopardizing our values or harming generations of human lives. Altering Embryo Genes, Safely, Should Not Be Off-Limits 2015-06-18T04:00:00Z Studies of treatments for autoimmune and rare genetic diseases as well as for different forms of cancer are among those potentially affected. Contamination scare at NIH leaves clinical trial subjects with tough choice 2015-06-05T04:00:00Z While cancer is a genetic disease, he writes, nutrition plays a role in its occurrence. An anti-cancer diet? 2015-06-01T04:00:00Z Rayna is a second-grader at Sandburg Elementary School in the Springfield School District who is living with cystic fibrosis, a life-threatening genetic disease that affects the lungs and digestive system. EXCHANGE: Springfield girl featured in fund raising campaign 2015-05-29T04:00:00Z “If you’re working on a genetic disease of the eye, you might do a direct injection into the eye.” Scientists are growing anxious about genome-editing tools 2015-05-18T04:00:00Z Cystic fibrosis is a genetic disease that causes thick, sticky mucus to form in the lungs, pancreas and other organs. Combination Treatment for Cystic Fibrosis Shows Promise 2015-05-17T04:00:00Z Some argue that screening for genetic diseases as part of IVF would be a better method of preventing disorders being passed down through the generations. Embryo engineering a moral duty, says top scientist - BBC News 2015-05-12T04:00:00Z The FDA announced in February that it will liberalize the regulation of certain diagnostic tests that identify carriers of certain genetic diseases. FDA Regulation of Diagnostic Tests: One Step Forward, Two Steps Back 2015-05-06T04:00:00Z The MDA aims to raise awareness and improve the lives of people suffering from muscular dystrophy, a rare muscle-wasting genetic disease, amyotrophic lateral sclerosis and other related diseases. Muscular dystrophy telethon, long run by Jerry Lewis, ends on ABC 2015-05-01T04:00:00Z “As much as we worry about premature or ethical use, using these technologies to get rid of genetic disease would be amazing: Tay-Sachs, cystic fibrosis, sickle cell disease, hemophilia,” Caplan said. Scientists are growing anxious about genome-editing tools 2015-05-18T04:00:00Z At two weeks old, Bauer was diagnosed with Cystic Fibrosis, a genetic disease that attacks the respiratory and digestive systems. Twelve Year Old Entrepreneur Breaks Into Fashion For An Important Cause 2015-04-30T04:00:00Z “What this study means is that this protein does not only work in a particular genetic disease, it works in all humans,” says Belmonte. The Secret to Aging May Lie in How Our DNA Is Packaged 2015-04-30T04:00:00Z Indeed, members of hundreds of patient-advocacy groups, for instance for rare genetic diseases, are eager to be involved in studies to test candidate drugs. Personalized medicine: Time for one-person trials 2015-04-28T04:00:00Z “People with genetic diseases are going to go on reproducing.” Ethics of embryo editing paper divides scientists 2015-04-23T04:00:00Z Researchers say that human clinical trials to fix genetic diseases — for example, sickle cell anemia — are only a few years away. Scientists are growing anxious about genome-editing tools 2015-05-18T04:00:00Z They argue that studies which bring us closer to eliminating life-limiting genetic diseases must be allowed to continue. Row over human embryo gene editing - BBC News 2015-04-24T04:00:00Z The lives of six boys with a deadly genetic disease have been transformed by a pioneering treatment to correct errors in their DNA, say doctors. Gene therapy: 'Tame HIV' used to cure disease 2015-04-21T04:00:00Z Gao's team used computer simulations to determine the likelihood that a recessive mutation in a founder would show up as a genetic disease in a Hutterite child born after 1950. Genomes carry a heavy burden 2015-04-14T04:00:00Z There are no laws requiring testing for genetic diseases or requiring that donors — usually in their 20s at the time of donation — update medical information as they age and inherited diseases may surface. Lightly regulated in vitro fertilization yields thousands of babies annually 2015-04-13T04:00:00Z Type 1 is believed to be primarily a genetic disease, triggered by an unfortunate DNA configuration that signals the body’s immune system to destroy insulin-producing beta cells. How Traumatic Life Events During Childhood Affect Diabetes 2015-04-09T04:00:00Z Cancer is a genetic disease, driven by mutations that lift the brakes on cell proliferation. Tumour mutations harnessed to build cancer vaccine 2015-04-01T04:00:00Z One financial model for rare diseases is the groundbreaking “venture philanthropy” pioneered by the Cystic Fibrosis Foundation, which funded early research on four key medicines for the genetic disease. Science, patients driving rare disease drug research surge 2015-03-25T04:00:00Z The results suggest that, on average, two first-cousins are 1.8% more likely than unrelated parents to produce a child with a serious genetic disease — a relatively small effect, says Gao. Genomes carry a heavy burden 2015-04-14T04:00:00Z The genetic disease causes severe and multiple seizures, which often leave parents wondering if their child’s seizure will pass or turn fatal. Idaho Senate approves decriminalizing marijuana extract oil 2015-03-24T04:00:00Z Saturday is World Down Syndrome Day, a day recognized each year by the United Nations to raise awareness about the genetic disease. 5 Things to Know on World Down Syndrome Day 2015-03-21T04:00:00Z There is only a tiny handful on the U.S. market: Most recently, an antisense drug was approved in 2013 for a genetic disease that causes extremely high cholesterol. New drug for Crohn's disease targets RNA 2015-03-18T04:00:00Z The medical process aims to help mothers avoid passing genetic diseases to their babies. Latest News: Immigration Policy, Chicago Runoff, ‘American Sniper’ Verdict 2015-02-25T05:00:00Z Earlier this month, 382 MPs voted in favour, and 128 against the technique that stops these genetic diseases being passed from mother to child. Deciding vote on three-person babies 2015-02-23T05:00:00Z The promising technique, which involves replacing the defective cellular material of a woman’s eggs with that from a healthy donor, aims to prevent patients from passing down crippling genetic diseases to their offspring. Three-Parent IVF Deserves a Chance in the U.S. 2015-02-03T05:00:00Z The United Kingdom’s House of Commons voted overwhelmingly today to allow British researchers to pursue a new fertility treatment that could prevent certain kinds of genetic diseases. U.K. Parliament approves controversial three-parent mitochondrial gene therapy 2015-02-03T05:00:00Z Britain could become the first country to legalize the procedure, which is aimed at preventing deadly genetic diseases being passed from mother to child. Latest News: Mohamed Fahmy, New England Patriots and Suge Knight 2015-02-03T05:00:00Z The fertility technique aims to help women at risk of passing on serious and often life-threatening genetic diseases through their DNA. Babies created from three people 2015-02-02T05:00:00Z It is time to classify this genetic disease, so that they can fight it instead of their insurer. ‘Food Is a Death Sentence to These Kids’ 2015-01-21T05:00:00Z Newborn babies across England will be screened for more debilitating genetic diseases from Monday. Extra screening tests for newborns 2015-01-05T05:00:00Z Newborn babies across England will be screened for more debilitating genetic diseases from today. Life-saving baby screening expanded 2015-01-04T05:00:00Z And then there’s the return of gene therapy, in which genes are delivered using viruses to treat genetic diseases. The Best-Performing Biotechnology Stocks Of 2014 2015-01-01T05:00:00Z Two years later he was diagnosed with fibrosing alveolitis, a rare genetic disease in which fibrous tissue forms in the lungs. The ex-MPs who died in 2014 - part two 2014-12-30T05:00:00Z Misregulated splicing contributes to an estimated 15 to 60 percent of human genetic diseases. The Dark Corners of Our DNA Hold Clues about Disease 2014-12-18T05:00:00Z The results were similar regardless of parents' age, gender, race, ethnicity, level of education, family history of genetic disease, or whether their newborn was their first child, the researchers said. New Parents Favor In-Depth Genetic Testing, Survey Finds 2014-12-04T05:00:00Z One theme in this new section is the idea that cancer is a genetic disease caused by mutations in cell cycle controls. 4 Tips to Prepare for the MCAT's New Natural Sciences Questions 2014-12-02T05:00:00Z Although most existing treatments for genetic diseases typically only target symptoms, genetic manipulation or 'gene therapy' goes after the cause itself. Gene therapy: Editorial control : Nature : Nature Publishing Group 2014-11-11T05:00:00Z And GoFundMe says its most successful campaign raised more than a million dollars for a child with a rare genetic disease. That Selfie Is So Good, It Could Help You Pay for College 2014-09-11T04:00:00Z The UK is now looking to legalise a new, similar technique which would use a donor's mitochondria to try to eliminate debilitating genetic diseases. Weekendish: The best of the week's reads 2014-09-05T04:00:00Z After selling off Venere, she started a foundation to support research into blue-cone monochromacy, a rare genetic disease that runs in her family and which causes vision problems and colour blindness. Life outside the lab: The ones who got away 2014-09-02T04:00:00Z The promise of gene therapy was always titillating: The technique offers the chance for patients with genetic diseases to replace disease-causing genes with healthy ones. Biotechnology to the Rescue 2014-09-02T04:00:00Z In addition to analyzing the human brains, the Columbia team studied mice they programmed to develop tuberous sclerosis complex, a rare genetic disease that is often accompanied by autism. Brains of Autistic Children Have Too Many Synapses, Study Suggests 2014-08-21T04:00:00Z But in the near future, they might also be crucial documents predicting future genetic diseases. Scanning Family Photos Can Reveal Rare Genetic Disorders Food and Drug Administration to treat hereditary angioedema, a genetic disease that leads to sudden and potentially fatal swelling of the hands, feet, limbs, face, intestinal tract or airways. Ruconest Approved for Rare Genetic Disease 2014-07-17T04:00:00Z This is different from a related technique called preimplantation genetic diagnosis, which tests embryos for specific mutations with the goal of preventing the birth of a baby with a genetic disease. Fertility Clinics Scan for the Strongest Embryo 2014-07-11T04:00:00Z "The age of the woman is probably the most important risk factor associated with any human genetic disease," said the study's co-author, Terry Hassold, a WSU professor of reproductive biology in a news release. Study Targets Causes of Birth Defects 2014-07-08T04:00:00Z “I’m absolutely convinced that leprosy must be thought of as a genetic disease as well as an infectious one,” Dr. Schurr said. Leprosy, Still Claiming Victims 2014-06-30T04:00:00Z But mtDNA doesn’t follow the classical rules of inheritance, whereby the combination of our parents’ genes determines whether we will have a genetic disease. The Brave New World of Three-Parent I.V.F. 2014-06-27T04:00:00Z In the war against genetic disease, scientists just gained some important ground. In A Victory For Gene Research, Drugs Clear Lungs Clogged By Cystic Fibrosis 2014-06-24T04:00:00Z To date, most extremely expensive drugs have been for small groups of patients, such as those with a rare genetic disease. Costly cures 2014-06-05T04:00:00Z Duchenne muscular dystrophy is a genetic disease that gradually causes weakness and loss of muscle function. Duchenne drug 'nears approval' in EU 2014-05-23T04:00:00Z If eventually approved by regulators, VX-661 would be the second drug from Vertex that works by treating the underlying cause of cystic fibrosis, a rare genetic disease that impairs the lungs and digestive system. Vertex says cystic fibrosis drugs shown to boost lung function 2014-05-02T00:51:37Z For Moalem, certain features—the cleft of a chin, the space between eyes, even extra eyelashes—may signal rare developmental and genetic diseases. MIND Reviews: Inheritance 2014-04-27T14:30:00Z “We both wanted girls and we wanted them to be healthy and free of genetic diseases so we chose to do IVF,” Wilson, 26, told Us Weekly. Girls Gone Wild Founder Uses Science To Make Sure His Children Are Girls 2014-04-11T22:51:30Z The promising results may change how prenatal screening for genetic diseases is done, though the test is costly and generally not yet covered by insurance for women at low risk. Well: New DNA Test Better at Predicting Some Disorders in Babies, Study Finds 2014-02-26T22:03:51Z Tests found a rare form of a genetic disease, , that was causing a particularly destructive set of symptoms: intense itching and skin so fragile that scratching ripped it to shreds. Itching: More Than Skin-Deep 2014-02-18T17:32:56Z Tests found a rare form of a genetic disease, epidermolysis bullosa, that was causing a particularly destructive set of symptoms: intense itching and skin so fragile that scratching ripped it to shreds. Itching: More Than Skin-Deep 2014-02-17T20:46:24Z As Moalem details in his new book Inheritance, the study of rare genetic diseases serves an important purpose. MIND Reviews: Inheritance 2014-04-27T14:30:00Z And engineer Jeff Williams, whose cirrhosis was wrongly attributed to alcoholism, not a genetic disease, is on a crusade to raise awareness of hereditary hemochromatosis caused by the dangerous accumulation of iron in the blood. What makes a good Medical Mystery? The writer tells all. 2014-01-27T22:56:15Z “Scientifically and medically, it’s pretty exciting,” said Dr. Leslie G. Biesecker, chief of the genetic disease research branch at the government’s National Human Genome Research Institute, who is familiar with the project. Aiming to Push Genomics Forward in New Study 2014-01-13T05:09:44Z It was then so unorthodox to regard cancer as a genetic disease that “I got sort of amused tolerance at the beginning,” Dr. Rowley later said. Janet D. Rowley, Who Discovered That Cancer Can Be Genetic, Dies at 88 2013-12-21T02:55:29Z The ambition is to have a Saudi-specific database that will help to provide personalised healthcare in the Kingdom and identify genetic diseases affecting Arab people. Do You Really Want To Know What Your Genetic Code Says About You? 2013-12-17T18:24:00Z Soon it will be a sin of parents to have a child that carries the heavy burden of genetic disease. Commentary: The Eugenics Legacy of the Nobelist Who Fathered IVF 2013-10-04T18:15:01.760Z In addition to developing new compounds, it last year broadened its mission to include genetic diseases of metabolism. Biotechnology: The start-up engine 2013-09-25T17:20:27.037Z Achondroplasia is a rare genetic disease characterized by abnormal bone development, resulting in short stature. [Research Articles] Postnatal Soluble FGFR3 Therapy Rescues Achondroplasia Symptoms and Restores Bone Growth in Mice 2013-09-18T18:55:05.867Z Her findings helped establish cancer as a genetic disease. Janet D. Rowley, Who Discovered That Cancer Can Be Genetic, Dies at 88 2013-12-21T02:55:29Z The girls wanted to use the challenge as a way of raising money and awareness for the Duchenne Children's Trust, which raises money for research into the fatal genetic disease Duchenne Muscular Dystrophy. VIDEO: Wing-walking girls take world record 2013-08-21T18:45:29Z "We were doing so many of these exomes in the research setting, and developing expertise around interpretation and solving genetic disease," Gibbs says. Clinics Offer Expensive Whole-Genome Tests for Undiagnosed Disorders 2013-07-10T12:15:00.697Z Mr. Doriguzzi has a rare genetic disease called Friedreich’s ataxia, a condition that is making him gradually lose physical coordination and the ability to speak fluently. Grenoble Journal: Disabled People Say They, Too, Want a Sex Life, and Seek Help in Attaining It 2013-07-05T01:34:27Z Human pro-nuclei being transferred to donor embryo at Newcastle The decision of the government to support a ground-breaking technique for preventing serious genetic disease is a bold step for science and society. A bold step for science and society 2013-06-27T23:35:07Z In the short-term, we’re going to be getting rid of obvious genetic diseases, not trying to modify things we don’t even understand, like height. No, This Is Not How The Human Face Might Look In 100,000 Years 2013-06-08T01:32:10Z Asthma is a clinically heterogeneous genetic disease, and its pathogenesis is incompletely understood. [Research Articles] Impaired Sphingolipid Synthesis in the Respiratory Tract Induces Airway Hyperreactivity 2013-05-22T18:55:07.587Z That may pave the way to treatments for genetic diseases such as Leber’s hereditary optic neuropathy. Double vision 2013-05-22T17:20:00.737Z One of the great medical breakthroughs of the twentieth century was the finding that cancer is in its heart and soul a genetic disease. Cancer, genomics and technological solutionism: A time to be wary 2013-05-20T17:15:00.357Z His discoveries helped unravel the biology of and more than two dozen other genetic diseases in which a shortage of lysosomal enzymes causes waste to accumulate in cells and eventually destroy them. Christian de Duve, Nobel-Winning Biochemist, Dies at 95 2013-05-06T19:39:09Z His discoveries helped unravel the biology of Tay-Sachs disease and more than two dozen other genetic diseases in which a shortage of lysosomal enzymes causes waste to accumulate in cells and eventually destroy them. A Nobel Laureate And Proponent Of Original Sin 2013-05-08T13:19:08Z His discoveries helped unravel the biology of Tay-Sachs disease and more than two dozen other genetic diseases in which a shortage of lysosomal enzymes causes waste to accumulate in cells, eventually destroying them. Christian de Duve, Nobel-Winning Biochemist, Dies at 95 2013-05-06T19:39:09Z Increasingly, zebrafish experiments are included in studies of human genetic disease, often providing independent verification of the activity of a gene implicated in a human disease. The zebrafish reference genome sequence and its relationship to the human genome 2013-04-24T17:21:53.517Z Identical twins occur once in every 300 births, more frequently than most genetic diseases. Turning point: Bruno Reversade 2013-03-20T18:20:55.167Z After the discovery, other researchers went on to identify more than 50 lysosomal enzymes and some genetic diseases that result when an enzyme either is absent or does not function properly. Christian de Duve, Nobel-Winning Biochemist, Dies at 95 2013-05-06T19:39:09Z She plays basketball and volleyball, or she did until February of last year when nephronophthisis, a genetic disease that was destroying her kidneys, left her too weak to enjoy them any more. How OkCupid Led an Organ Donor to Find the Teen with His Kidney 2013-02-14T22:07:20Z After Dr. de Duve’s discovery, other researchers went on to identify more than 50 lysosomal enzymes and some genetic diseases that result when an enzyme either is absent or does not function properly. Christian de Duve, Nobel-Winning Biochemist, Dies at 95 2013-05-06T19:39:09Z However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. The zebrafish reference genome sequence and its relationship to the human genome 2013-04-24T17:21:53.517Z The technique could be used to test for genetic diseases and abnormalities, which is bound to provoke ethical debate. Medical sciences news highlights of 2012 2012-12-29T02:39:55Z Their finding, published in the December issue of Cell Metabolism, builds on their work in 2005 which shed light on premature aging, or progeria, a rare genetic disease that affects one in four million babies. Scientists in Hong Kong map initial anti-aging formula 2012-12-20T12:55:39Z Their finding, published in the December issue of Cell Metabolism, builds on their work in 2005 which shed light on premature ageing, or progeria, a rare genetic disease that affects one in four million babies. Scientists in Hong Kong map initial anti-ageing formula 2012-12-20T08:52:29Z The current method of prenatal testing for genetic diseases, known as karyotyping, involves a cruder analysis of DNA as it is packaged in chromosomes in fetal cells. New Prenatal Test Could Improve Detection of Congenital Disease 2012-12-06T16:50:23Z Whitworth argued that the company’s share price was trading below its fundamental value because, while its genetic diseases division was profitable, the newer segments were not generating an acceptable return. When science collides with stock market pressure 2012-11-10T22:59:50Z Gene therapy boost Glybera, a treatment for a rare genetic disease that leaves patients unable to break down fats, has become the first gene therapy to be approved by the European Commission. Seven days: 2–8 November 2012 2012-11-07T18:20:36.423Z The disorder, called familial hypercholesterolemia, is a genetic disease that results in elevated bad cholesterol levels and increased risk of premature heart disease. FDA reviewers spot safety concerns with Sanofi, Isis lipid drug 2012-10-16T18:53:12Z The son of a Haitian construction magnate, Oriol as a child was diagnosed with spinal muscular atrophy, a genetic disease similar to muscular dystrophy. Haiti’s government and charities work to improve access for people with handicaps 2012-10-15T20:35:00Z There are 3,500 single-gene mutations, and up to a third of babies admitted to neonatal intensive care in the US have genetic diseases, the release says. Boot up: Raspberry Pi password caution, new Nexus details?, mistakes Jobs made and more 2012-10-08T05:30:00Z The object of the exercise: to identify foetuses with the earmarks of genetic disease as candidates for abortion. Warning: Genetically Modified Humans 2012-10-04T13:45:00.217Z US doctors say up to a third of babies admitted to neonatal intensive care units are there because of genetic diseases caused by mutations in their DNA. Ill baby DNA test cut to 50 hours 2012-10-04T04:35:04Z More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. Two-day test can spot gene diseases in newborns 2012-10-03T23:31:06Z Then they tried the method on four babies who were seriously ill with suspected genetic diseases, including the baby with seizures. New Test of Babies’ DNA Speeds Diagnosis 2012-10-03T19:27:53Z It would be negligent not to screen for genetic diseases if the opportunity to do so existed. Unnatural selection: is prenatal testing a triumph for reproductive freedom or brazen discrimination? 2012-09-17T23:45:00.213Z Since Tay-Sachs is a genetic disease with increased prevalence among Ashkenazi Jews, Jewish communities early on welcomed genetic testing for prospective parents and by doing so dramatically reduced the incidence of the disease. When should medicine talk about race? 2012-08-25T22:45:02.807Z However, there are more than 3,500 different genetic diseases meaning many are rare and difficult to diagnose. Ill baby DNA test cut to 50 hours 2012-10-04T04:35:04Z But perhaps such ageing Lotharios should think twice, for evidence is accumulating that their offspring are at greater-than-average risk of genetic disease. Genetic damage and paternal age: Father figures 2012-08-23T15:11:37Z Known genetic diseases are often hard to treat and always incurable. The human microbiome: Me, myself, us 2012-08-16T15:04:04Z An early, noninvasive test could in theory become an option for all pregnant women, not just those who carry a high risk of genetic disease. Unnatural selection: is prenatal testing a triumph for reproductive freedom or brazen discrimination? 2012-09-17T23:45:00.213Z Several years ago, he was helping to develop a database for patients with rare genetic diseases when he started wondering what his own genome might reveal. Keeping It in the Family 2012-08-13T18:52:00Z However, an important factor was widely overlooked – a genetic disease that causes high cholesterol at a young age regardless of common risk factors like diet and exercise. Industry PR Efforts Influence Debate On Cholesterol Screening Guidelines For Children 2012-08-03T19:25:14Z Gene therapies alter a patient's DNA to treat inherited diseases passed from parent to child. a therapy for a rare genetic disease which leaves people unable to properly digest fats. Europe nears gene therapy first 2012-07-20T15:11:47Z Scientists increasingly see cancer as a genetic disease defined not so much by where it starts — colon, liver, brain, breast — but by genetic aberrations that are its Achilles’ heel. Vast Gene Study Raises Hopes for Colon Cancer Drugs 2012-07-18T17:13:34Z If we say yes to abortion for no reason at all, it seems illogical to forbid it for a well-defined reason, such as genetic disease. Unnatural selection: is prenatal testing a triumph for reproductive freedom or brazen discrimination? 2012-09-17T23:45:00.213Z Already, he says, the search for the causes of rare genetic diseases in children is being conducted using DNA sequencing at places such as Baylor, the Medical College of Wisconsin, and Yale. Complete Genomics Is Great At Sequencing DNA. Can It Survive? 2012-07-13T12:09:42Z Hormone injections are a common way to treat conditions that stunt growth, from hormonal deficiencies to genetic diseases like Turner and Prader-Willi syndromes. Growth hormone tied to higher eye pressure in kids 2012-07-06T04:06:40Z Hemophilia is a genetic disease in which the blood does not clot normally, so many patients require regular treatments, raising health-insurance costs. Relief for families with high medical expenses 2012-06-29T04:58:03Z A diet high in cholesterol may help people with a fatal genetic disease which damages the brain, according to early studies in mice. Cholesterol 'helps' damaged brain 2012-06-17T17:24:50Z The researchers hope their findings will one day be used to test safely for genetic diseases. Foetus has its genome deciphered 2012-06-07T14:42:15Z That would allow thousands of genetic diseases to be detected prenatally. Tests of Parents Are Used to Map Genes of a Fetus 2012-06-07T01:55:45Z Professor Huxley and Professor Hodgkin’s work further explained how anesthesia works, laid the groundwork for devices that operate prosthetic limbs, and led to the identification of certain genetic diseases. Andrew Huxley, Nobel-Winning Physiologist, Dies at 94 2012-06-04T18:47:19Z For the first time, I made a conscious decision to focus my career on neurodevelopmental diseases — genetic diseases, including autism, that affect cognition. Turning point: Ricardo Dolmetsch 2012-05-23T17:21:46.867Z It runs in families, the hallmark of any genetic disease. Pathology: Cause and effect 2012-05-22T15:21:12.780Z But this would lead to more genetic defects only if sperm donors were more likely than other men to carry genetic diseases. Letters: Sperm Donors and Disease (3 Letters) 2012-05-21T22:13:01Z For couples worried about passing on a genetic disease, it is also possible to use in vitro fertilization and have an embryo genetically tested before implantation into the womb. Tests of Parents Are Used to Map Genes of a Fetus 2012-06-07T01:55:45Z Their research also led to the identification of genetic diseases known as channelopathies, which result from defects in ion gates, or ion channels as they are known today. Andrew Huxley, Nobel-Winning Physiologist, Dies at 94 2012-06-04T18:47:19Z Bone marrow or stem cell transplants are used to treat various cancers and genetic diseases. A Stem-Cell-Based Drug Gets Approval in Canada 2012-05-18T06:53:01Z The Neuro Foundation says one baby is born each day in the UK with this genetic disease. Boy battled cancer twice in year 2012-05-13T00:39:25Z Since the article correctly points out that sperm donors are “no more likely to carry genetic disease than anybody else,” the general gene pool would not be impacted. Letters: Sperm Donors and Disease (3 Letters) 2012-05-21T22:13:01Z Use of the approach could lead to an increase in abortions because some parents might terminate the pregnancy if the fetus was found to have a genetic disease. Tests of Parents Are Used to Map Genes of a Fetus 2012-06-07T01:55:45Z Evidence of systematic positive bias was turning up in research ranging from basic to clinical, and on subjects ranging from genetic disease markers to testing of traditional Chinese medical practices. Beware the creeping cracks of bias 2012-05-09T17:20:19.393Z Cancer’s epicentre THE biggest conceptual breakthrough in the war on cancer was the realisation by the 1980s that it is always a genetic disease. Cancer and epigenetics: Cancer?s epicentre 2012-04-03T16:18:14Z According to the FDA, it is the most common fatal genetic disease for Caucasians. New drug a breakthrough for cystic fibrosis patients 2012-03-17T23:46:03Z Clinical sequencing programmes aimed at identifying the causes of rare genetic diseases, mostly in children, are also being set up. Sequencing set to alter clinical landscape 2012-02-15T18:20:55.183Z About 200,000 people in the United States and Europe suffer from retinitis pigmentosa, a genetic disease that causes the slow degradation of eyesight starting from a young age, and often leads to blindness. Retinal Implant Brings Eyesight To The Blind 2012-02-11T21:30:49Z For another, the genetic diseases are maladaptive — they hinder survival. Castaway lizards put evolution to the test 2012-02-05T00:22:56Z “This is a breakthrough therapy for the cystic fibrosis community because current therapies only treat the symptoms of this genetic disease.” F.D.A. Approves Cystic Fibrosis Drug 2012-01-31T18:25:55Z The Food and Drug Administration said on Tuesday Kalydeco was effective in treating people with the genetic disease, which impairs the lungs and digestive system. FDA approves Vertex's cystic fibrosis drug 2012-01-31T16:39:53Z Some genetic diseases are well understood and treatable if caught early enough. Genome Map Lets Kristal James Become a Mom Again Beating Cancer 2012-01-23T13:30:39Z She recalled undergoing fetal testing for genetic disease before the births of her first two boys. Search Genome as Tennis Thrice Weekly No Barrier to Decoded DNA 2012-01-17T05:50:41Z Dr. Crow was interested in the power of genetics to reverse genetic disease, and he believed that genetics would continue to delineate differences between human groups. James F. Crow, Population Genetics Pioneer, Dies at 95 2012-01-11T01:34:28Z Every state requires newborns to be screened for at least 29 genetic diseases. Insight: New DNA reader to bring promise 2012-01-10T05:10:00Z Hypophosphatasia is a genetic disease for which there are currently no approved treatments. Alexion to buy Enobia Pharma 2011-12-28T22:53:34Z While Maya’s eyes were slightly wide-set and her ears low, both sometimes signs of genetic disease, doctors dismissed their concerns when she behaved like a normal newborn. Genome Map Lets Kristal James Become a Mom Again Beating Cancer 2012-01-23T13:30:39Z Dr. Mukherjee noted that surprisingly recently, researchers discovered that cancer is a genetic disease, caused primarily by mutations in our DNA. Essay: David Patterson: Enlist Computer Scientists in Cancer Fight 2011-12-05T23:54:03Z Shire’s plan for staying ahead of the pack is to “push the boundaries” of treatments for rare genetic diseases, Chief Executive Officer Angus Russell says. Shire Finds Riches in Orphan Drugs 2011-12-01T22:15:11Z Some people develop extremely high LDL levels because of a genetic disease called familial hypercholesterolemia that severely limits their ability to clear cholesterol from their blood. Cholesterol Conundrum 2011-10-25T15:15:00.250Z “What we’re looking for is to push the boundaries really of the next frontier of treating rare genetic diseases,” Russell said. Shire Tests Spinal Pump in ‘Next Frontier’ for Rare Disease Drug 2011-10-19T23:24:31Z The work should serve as a model for studying other mosaic genetic diseases, she says. Gene May Explain 'Elephant Man' Disorder 2011-07-27T22:00:00Z Hereditary angioedema is a rare and dangerous genetic disease characterized by sudden attacks of swelling in areas such as hands, arms, feet, face or breathing passages. Shire drug for rare swelling worked in trial: FDA 2011-06-21T15:18:34Z They phone them when new discoveries about genetic diseases arise — not unusual these days, as the technology to analyze DNA gets slicker by the year. Genetic counselors help people who may be at risk for diseases 2011-04-20T18:26:04Z Mutations in two of them cause a rare genetic disease called mucolipidosis. Ancient Mutation to Blame for Stuttering ? 2011-02-21T16:15:44Z It is too soon to tell whether cures for genetic disease were oversold or fears of producing a genetic underclass were much overblown. [Essay] Genome-Sequencing Anniversary: A Living Constitution 2011-02-17T19:26:20.137Z The technique offers a more efficient and humane strategy for studying the lethal ailment, Timothy syndrome; someday, the approach may be used for other genetic diseases. Stanford research team builds tiny broken heart to study lethal ailment 2011-02-10T05:36:03Z And by the late 1970s, there’d be common agreement: cancer is a genetic disease. A Conversation With Janet D. Rowley: The Matriarch of Modern Cancer Genetics 2011-02-07T20:20:04Z |
| 随便看 |
|
英语例句辞典收录了117811条英语例句在线翻译词条，基本涵盖了全部常用单词及词组的例句翻译及用法，是英语学习的有利工具。