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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The four year training program is open only … a complementary training program in the genetic basis of disease, both adult and pediatric, including cytogenetic, …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … if any, is needed to study Mendelian and common disease, and what should NHGRI do in this area? Why? … of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… patients with HA20 (haploinsufficiency of A20), a disease that may be associated with inflammatory liver disease and is investigating medications that will prevent … prevent caspase cleavage of RIPK1 cause autoinflammatory disease . Nature . 2020 Jan;577(7788):103-108. Ombrello AK, …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … Research Program (Kids First) and the Undiagnosed Disease Network (UDN). … Rockville Hilton Hotel … MD … 1750 … focused on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the … associate research physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of … to decipher the complex and potentially devastating disease, deficiency of adenosine deaminase 2. She has also …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… because the test is the same no matter what inherited disease the patient has," said Dr. Biesecker. The genome is a … that form the blueprint for every characteristic - and disease - that define a person. But for health care … teach practical skills for applying computational tools to disease-gene discovery, patient genome interpretation and big …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and … is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine … is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.