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Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment Speaker, Shaima Raji Abdul …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… child becomes blind, cognitively impaired, paralyzed and non-responsive. By the time a child with Tay-Sachs is three … United States is a carrier of the Tay-Sachs disease gene. Non-Jewish French Canadians living near the St. Lawrence … have less Hex-A in their body fluid and cells than non-carriers. DNA-based carrier testing looks for specific …
Event
We invite scholars to submit ideas to be one of six to seven speakers at our symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present, and Future”, with an additional opportunity to join a collected set of papers on the same theme.
… stand outside of that framework. Ableism gets enacted when non-disabled people design and build a world without … scholars have argued (sometimes strenuously) that prenatal selection against genetic “impairments” is overly … All of this must be balanced with clear evidence that prenatal screening, newborn genome sequencing, clinical …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… for Genetic Disorders) 527T. Surjo K. Sen: STEM9, a novel non-coding RNA on chromosome 9p21, is downregulated in … sequencing of urinary exosomes. (Clinical Genetic Testing) 2051T. Mariska Davids: A protein glycosylation … (Clinical Genetic Testing) 2129F. Marta Biderman Waberski: Prenatal presentation of an inherited chromosome 6p22. 3 …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… of medical and mental health, followed by cognitive testing activities. While the adults spoke privately, Luke was kept occupied with some similar testing, which involved letter blocks and worksheets, as well …
Staff
Dr. Sara Chandros Hull is a co-deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… and Berkman BE. Views of American OB/GYNs on the ethics of prenatal whole genome sequencing. Prenatal Diagnosis, 36(13):1250-1256 . 2016. [ PubMed ] … of Direct-to-Consumer Advertising for Clinical Genetic Testing," JAMA , 288(14): 1762-1766. 2002. [ PubMed ] Davis …
File
… •In Preparation: • ACMG’s Revised Position Statement on Non -Invasive Prenatal Screening ( NIPS) , which is expected to be publis …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… disease through diet and blood pressure control. Genetic testing for PDK1 and PDK2 is also available for prenatal diagnosis and preimplantation genetic diagnosis. However this testing is not usually requested for ADPKD because it is … The treatment for ADPKD is aimed at treating the kidney and non-kidney symptoms. Blood pressure is followed regularly. …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Pennsylvania 1:20 p.m. to 1:40 p.m. — Making Disability in Prenatal Genetic Testing Meghna Mukherjee, University of California, Berkeley …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is based on clinical symptoms and laboratory testing. A diagnosis of Gaucher disease is suspected in … platlets or signs of nervous system problems. Laboratory testing involves a blood test to measure the activity level … the four most common GBA mutations. Both enzyme and DNA testing can be done prenatally. A bone marrow or liver biopsy …