Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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, …
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, …
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.
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
… translation of genomic discoveries for health promotion, disease prevention, genetic counseling, and health care … Factors, Genomic Discoveries, Health Promotion, Disease Prevention, Genetic Counseling, Health Care …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Devin Pillis, M.S. Greater Baltimore Medical Center Cancer Risk Assessment Jennifer Billiet, M.G.C.  Pediatric Genetics … Hopkins Medical Institutions Center for Inherited Heart Disease Clinic  Emily Brown, M.S. Cynthia James, Ph.D., … and Therapy Section Amy Turriff, Sc.M.  Childhood Complex Disease Genomics Emilyn Banfield, Ph.D., M.S.  Medical …
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.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort … Pathogenicity Classification P824 GREGoR: increasing rare disease diagnosis using emerging technologies and data …