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Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… in cardiovascular disease. They utilize a combination of noninvasive imaging, biomedical informatics, system biology …
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.
… body fluid and cells than non-carriers. DNA-based carrier testing looks for specific mutations or changes in the gene … to have a fetus tested for Tay-Sachs. Extensive carrier testing of Ashkenazi Jews has significantly reduced the … 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.
… 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 … 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.
… 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 microdeletion, encompassing the JARID2 gene. (Prenatal, Perinatal and Reproductive Genetics) 2274F. Irini …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… are working. What are we not trying to do? We are not testing any new medication or procedure to treat or cure MMA. … determination in cultured fibroblasts and/or genetic testing. We are also interested in evaluating patients with … will determine patient eligibility when definitive testing has not been performed. There are some reasons that …
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 …