Search Results
Staff
Dr. Sara Chandros Hull is a deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… 23:7, 5-8. [ PubMed ] Spector-Bagdady K, Fernandez Lynch H, Bierer BE, Gelinas L, Hull SC , Magnus D, Meyer MN, … R, Spector-Bagdady K Sugarman J, Wilfond B, Fernandez Lynch H (2021) An Ethics Framework for Consolidating and …
Event
On November 1-5, 2023, 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.
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
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… Tier 1 Toolkit – Information for patients and providers on Lynch syndrome https://www.cdc.gov/ genomics/implementation/toolkit/lynch_4.htm Other / No / Free 2020_02_25: 1) Name of …
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… National Quality Forum (NQF) • Tumor-based screening for Lynch syndrome followed by cascade screening in relatives • BRCA1/2 …
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… Conditions Genes Panel 1 Panel 2 Panel 3 Panel 4 Lynch MLH1, MSH2, PMS2, MSH6, EPCAM ✔ ✔ ✔ ✔ Autosomal … Compared to Standard of Care or Next Best Strategy 5 Lynch genes 10 genes =5+AD Penet 11 genes= 10+AR Penet 19 …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
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.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Albinism Alkaptonuria Study of Alkaptonuria Alstrom Syndrome Clinical and Molecular Investigations into … Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical and Molecular Investigations into …
Staff
Dr. Ours is an Assistant Research Physician at the Center for Precision Health Research, NHGRI.
… of segmental overgrowth disorders which focus on Proteus syndrome, tumor predisposition, and molecularly undiagnosed … of miransertib, a pan-AKT inhibitor, in the Proteus syndrome study ( NCT04316546 ). … Ferguson R, Scurr I, Ours … JJ, Pike K, & Spentzou G. Co-occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a …
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… Exploring the Microbiome and Its Connection to Metabolic Syndrome …