| 单词 | Tay-Sachs |
| 例句 | In Albuquerque, the ophthalmologist found “cherry red spots” on the backs of the baby’s retinas, and immediately diagnosed him with Tay-Sachs disease, a very rare, but inevitably fatal, genetic disorder. After the Loss of a Child, How Does Life Go On? 2021-01-19T05:00:00Z In her third memoir, Emily Rapp Black writes of tentatively, painfully regaining her footing after losing her son to Tay-Sachs disease. 11 New Books We Recommend This Week 2021-02-11T05:00:00Z Rapp’s memoir tells the story of mothering a child with Tay-Sachs disease. Waiting to love my child 2013-05-07T23:45:00Z Another son, Eric, died at 2 of Tay-Sachs disease, a recessive genetic disorder prevalent among Ashkenazi Jews. Phyllis R. Klotman, Scholar and Archivist of African-American Cinema, Dies at 90 2015-04-05T04:00:00Z These are single-gene disorders such as muscular dystrophy, cystic fibrosis, sickle-cell disease and Tay-Sachs syndrome but they are the exception. Identically Different: Why You Can Change Your Genes by Tim Spector – review 2012-08-08T09:30:03Z Ronan, just over 2 years old, is dying of Tay-Sachs, a progressive, neurological illness that is always fatal, and at this point he has seizures all day and all through the night. Someone to hold me 2012-07-12T00:00:00Z No one’s child is dying of Tay-Sachs, here. My girl problems 2012-08-01T00:00:00Z Within three years of life, a child with Tay-Sachs will die. Waiting to love my child 2013-05-07T23:45:00Z In one essay, Rapp talks about one of the most isolating sentences she hears as a mother to a Tay-Sachs kid: I cannot imagine. Waiting to love my child 2013-05-07T23:45:00Z A child with Tay-Sachs disease can appear radiantly healthy as a newborn but begins an inexorable decline by six months. To Life: Abortion Access Allowed Us to Have a Happy, Healthy Family 2022-07-18T04:00:00Z Disabled by late-onset Tay-Sachs disease, a neurological condition, she had been hospitalized with an uncertain prognosis. In Difficult Cases, ‘Families Cannot Manage Death at Home’ 2022-03-26T04:00:00Z Two babies have received the first-ever gene therapy for Tay-Sachs disease after over 14 years of development. First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children 2022-02-15T05:00:00Z And Joseph's Ashkenazi Jewish heritage also elevated the risk of certain genetic conditions like Tay-Sachs and Canavan disease, so she already planned on prenatal screening. For Texans who have difficult pregnancies, new abortion laws make journey to parenthood harder 2021-11-02T04:00:00Z But in his filing, the doctor said he and his family have tested negative for the Tay-Sachs mutation and notes that the disorder is also found in Irish and French people. Woman sues after learning ‘anonymous’ sperm donor was her own fertility doctor 2020-11-19T05:00:00Z After that first pregnancy, we went on to have a son and a daughter—punctuated by another Tay-Sachs pregnancy in between. To Life: Abortion Access Allowed Us to Have a Happy, Healthy Family 2022-07-18T04:00:00Z Initial attempts should be for serious diseases caused by a single gene, such as muscular dystrophy, cystic fibrosis, the blood disorder beta thalassemia and Tay-Sachs, a neurological disease, the report says. Still too soon to try altering human embryo DNA, panel says 2020-09-03T04:00:00Z In the case of Tay-Sachs, these DNA instructions enter the nucleus of these cells and stay there, allowing for long-term production of HexA. First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children 2022-02-15T05:00:00Z For roughly a century Tay-Sachs disease, named after two physicians who pioneered the description of the neurodegenerative disease, was believed to almost exclusively affect Ashkenazi Jews from central or Eastern Europe. A teenager’s apparent clumsiness foreshadowed a shocking diagnosis 2020-07-17T04:00:00Z Druyor also discovered that she is a carrier for Tay-Sachs disease, a rare and severe genetic disorder more common in people with Eastern European Jewish heritage. Woman sues after learning ‘anonymous’ sperm donor was her own fertility doctor 2020-11-19T05:00:00Z In another, they removed the four extra DNA letters in a particular gene that cause Tay-Sachs disease, a rare condition that destroys children’s nerves and usually proves fatal by five years old. New gene editing tool could fix most harmful DNA mutations 2019-10-21T04:00:00Z Tay-Sachs disease, a rare and fatal nerve condition, is often caused by the addition of four extra letters of code. DNA tool could correct 89% of genetic defects 2019-10-21T04:00:00Z Tay-Sachs is a severe neurological disease caused by a deficiency in an enzyme called HexA. First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children 2022-02-15T05:00:00Z One in 27 people of Ashkenazi Jewish ancestry carry the genetic mutation that causes Tay-Sachs, a rate ten times higher than the general population. A teenager’s apparent clumsiness foreshadowed a shocking diagnosis 2020-07-17T04:00:00Z Researchers also developed low-cost eyedrops to prevent blindness in children and a screening for Tay-Sachs disease, a genetic disorder that attacks the nervous system. South Bay couple donates $70 million to L.A. biomedical institute 2019-02-10T05:00:00Z A few cells from embryos are screened for dozens, and potentially hundreds, of genetic abnormalities such as Down syndrome, cystic fibrosis and Tay-Sachs syndrome, to name a few. How a scientist says he made a gene-edited baby – and what health worries may ensue 2018-11-30T05:00:00Z Third, for the disease reports, my eye lit on the phrase “variants not detected” for Parkinson's disease, cystic fibrosis, muscular dystrophy, sickle cell anemia, Tay-Sachs and, most concernedly, Alzheimer's. What Personal Genome Testing Can and Can't Do 2018-07-31T04:00:00Z This dismal description of Tay-Sachs remains current, and those with the disease usually die by age 5. First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children 2022-02-15T05:00:00Z Tay-Sachs, which typically affects infants, results from the absence of an enzyme called hexosaminidase A, which prevents the harmful accumulation of a fat in the brain and spinal cord. A teenager’s apparent clumsiness foreshadowed a shocking diagnosis 2020-07-17T04:00:00Z The program is credited with virtually eliminating new cases of Tay-Sachs disease, a neurodegenerative disorder, from these communities. In South Asian Social Castes, a Living Lab for Genetic Disease 2017-07-17T04:00:00Z His work led to diagnostic, carrier detection and prenatal tests for those disorders and Niemann-Pick and Tay-Sachs diseases. Washington-area obituaries of note 2016-07-18T04:00:00Z 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 Some people develop Tay-Sachs later in life, with symptoms starting in their teens that get progressively worse over many decades. First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children 2022-02-15T05:00:00Z Diagnosis is further complicated because in about 40 percent of cases initial symptoms include a manic episode or other psychiatric symptom, according to the National Tay-Sachs & Allied Diseases Association, a Boston-based support and advocacy group. A teenager’s apparent clumsiness foreshadowed a shocking diagnosis 2020-07-17T04:00:00Z Mendelian disorders, such as cystic fibrosis and Tay-Sachs disease, manifest in childhood and are generally caused by mutations in a single gene. Mystery factors protect lucky few from severe genetic disorders 2016-04-10T04:00:00Z Stopping inherited disease in its tracks Diseases that are passed down in families, like Huntington's and Tay-Sachs, might one day be simply snipped out of the family line. 5 Reasons Gene Editing Is Both Terrific and Terrifying 2015-12-03T05:00:00Z “We were told, ‘There’s nothing now that will help your child and there probably won’t in your lifetime, either,’ ” said Ungerleider, who became active in Tay-Sachs education and is a past president of NTSAD. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z Unfortunately there is still no treatment for Tay-Sachs. First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children 2022-02-15T05:00:00Z Doctors at NIH referred the family to Edwin H. Kolodny, a pioneering Tay-Sachs researcher who is currently a research professor of neurology at NYU School of Medicine. A teenager’s apparent clumsiness foreshadowed a shocking diagnosis 2020-07-17T04:00:00Z Other scientists envisage using gene-editing technology to remove harmful inherited conditions, such as Tay-Sachs or Huntington’s disease, from future generations. Top biologists debate ban on gene-editing 2015-11-28T05:00:00Z The conditions, apart from cystic fibrosis, include sickle cell anemia, Tay-Sachs disease and beta thalassemia. 23andME Launches New Consumer Test Service to Check for Genetic Disorders 2015-10-21T04:00:00Z Although Tay-Sachs is deadly in children, a form of the disease that appears in early adulthood is not always fatal, though it causes severe neurological problems. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z The only effective way to treat Tay-Sachs is to restore the HexA enzyme in the brain. First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children 2022-02-15T05:00:00Z There will be information on 36 diseases, including cystic fibrosis, sickle cell anemia and Tay-Sachs. 23andMe Will Resume Giving Users Health Data 2015-10-21T04:00:00Z “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 Tay-Sachs disease was first identified by two physicians, independently, in the 1880s. Think Like a Doctor: Taking a Stand Solved 2015-05-08T04:00:00Z The Tay-Sachs gene in Jacob sheep is an 86 percent DNA match with the human HexA gene. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z Currently, the preimplantation genetic diagnosis process is used to screen for single gene abnormalities like cystic fibrosis, Tay-Sachs disease and sickle cell anemia and, in more limited cases, gender. Egg Freezing Today, Genetically Engineered Designer Babies Tomorrow 2014-10-22T04:00:00Z Mutations in single genes cause many other diseases such as Tay-Sachs disease or some types of muscular dystrophy; the prognoses for people born with these conditions are similarly bleak. Genetic Heroes May Be Key to Treating Debilitating Diseases 2014-05-30T04:00:00Z I found comfort in the community of Tay-Sachs parents. Motherlode Blog: ‘Dragon Mother’ Emily Rapp: A New Baby Doesn’t, and Shouldn’t, Replace What’s Lost 2014-03-14T14:33:09Z All varieties of Tay-Sachs are seen more commonly in three populations: people of Ashkenazi descent, as was initially described, as well as those of French Canadian and Louisiana Cajun heritage. Think Like a Doctor: Taking a Stand Solved 2015-05-08T04:00:00Z Infants and children with Tay-Sachs gradually lose the ability to move, eat, see, swallow and breathe without assistance. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z 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 While there are thousands of such diseases - from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. Two-day test can spot gene diseases in newborns 2012-10-03T23:31:06Z As with Tay-Sachs, there is a range in disability. Think Like a Doctor: Taking a Stand Solved 2015-05-08T04:00:00Z Roughly 10 years after the deaths of Evan and the lambs, Kolodny delivered an update to the New York chapter of the national Tay-Sachs association. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z She gives the examples of cystic fibrosis and Tay-Sachs disease as belonging to the first category and race, height, and sexual preference in the second. 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 In the 1970s, Dr. Rimoin and Dr. Kaback developed the first large-scale screening program for Tay-Sachs disease, a fatal genetic disorder most likely to be carried by Ashkenazi Jews. David L. Rimoin, Expert on Dwarfism, Dies at 75 2012-06-09T02:34:37Z Such information would allow detection of so-called Mendelian disorders, like cystic fibrosis, Tay-Sachs disease and Marfan syndrome, which are caused by mutations in a single gene. Tests of Parents Are Used to Map Genes of a Fetus 2012-06-07T01:55:45Z But that is two lifetimes for an infant with Tay-Sachs. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z Amniocentesis between fifteen and twenty weeks can find chromosomal abnormalities as well as several other genetic disorders, such as sickle cell disease, cystic fibrosis, and Tay-Sachs disease. Unnatural selection: is prenatal testing a triumph for reproductive freedom or brazen discrimination? 2012-09-17T23:45:00.213Z The Diagnosis: Tay-Sachs is an inherited disease in which the inability to get rid of discarded parts of the cell membrane causes the death of certain nerve cells. Well: Think Like a Doctor: A Crooked Walk Solved! 2012-04-06T18:06:41Z The prenatal test I took for Tay-Sachs was negative; our genetic counselor didn’t think I needed the test, since I’m not Jewish and Tay-Sachs is thought to be a greater risk among Ashkenazi Jews. Opinion: Notes From a Dragon Mom 2011-10-16T00:27:18Z Due to Tay-Sachs disease, Aspen cannot see, walk, talk, or move normally, and suffers from daily seizures … her future looks bleak. Sick child, real treatment? 2011-07-12T02:19:58Z Money is a major hurdle to finding a treatment for Tay-Sachs in people, researchers and advocates say. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z Tests for other conditions, including cystic fibrosis, Tay-Sachs, hemophilia and sickle cell disease, may be four to five years away. Too Much Information? Noninvasive Genetic Tests for the Unborn 2011-04-13T12:45:02.793Z Now he went back to those articles, and there it was: Progressive weakness and cerebellar atrophy were characteristic of Tay-Sachs. Well: Think Like a Doctor: A Crooked Walk Solved! 2012-04-06T18:06:41Z Some genetic testing of prospective parents is done now, but only for a few diseases like cystic fibrosis and Tay-Sachs, and only for certain ethnic groups. 2010-01-29T05:57:00Z Tay-Sachs was identified in humans in the 1880s. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z And the Tay-Sachs Gene Therapy Consortium plans to seek federal approval to begin clinical trials on humans next year. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z Research on Tay-Sachs in animals dates to the 1960s, including at Auburn’s Scott-Ritchey Center. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z Any delay in finding a potential treatment is frustrating, said Bihn, whose daughter died from Tay-Sachs at 14. How rare sheep from biblical times may help kids with a deadly genetic disease 2016-05-23T04:00:00Z |
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