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Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… King discovering the BRCA1 gene. I also worked with Henry Lynch to find genes associated with colorectal cancer. At …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
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.
… 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 …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered … MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer . Genet Med . …
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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 …
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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… 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 …
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… National Quality Forum (NQF) • Tumor-based screening for Lynch syndrome followed by cascade screening in relatives • BRCA1/2 …
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 …