Search Results
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner … during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to …
File
… Making Disability in Prenatal Genetic Testing - Meghna Mukherjee (Oct. 2022) …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… events in brain development have crossed from the prenatal to the postnatal period. These developmental events …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… or whether to have a fetus tested for thalassemia. Prenatal testing can be done around the 11th week of pregnancy using … to take a sample of the fluid surrounding the baby for testing. Assisted reproductive therapy is also an option for …
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 … body fluid and cells than non-carriers. DNA-based carrier testing looks for specific mutations or changes in the gene … occur in populations thought not to be at high risk. Prenatal testing for Tay-Sachs can be performed around the …
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 …
Staff
Mr. Benjamin Berkman is the deputy director of NHGRI's Bioethics Core.
… BB, Hull SC, Berkman BE. Views of Pregnant Women on Prenatal Genome Sequencing . Obstetrics and Gynecology, … Speech in an Era of Radically Expanded Genetic Testing. Washington and Lee Law Review (in press). Prince AE …
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 … Medical- and bioethics Medical education Genetic testing or screening (clinical and popular), and the complex …
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 …
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 …