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​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being investigated. …
News Release
Supporting early career investigators at the cutting edge of genomics.
… Supporting early career investigators at the cutting edge of genomics … The Genomic Innovator Awards will provide funding to six institutions as detailed below, to support early career researchers studying genome biology, …
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.Â
… 2:30 – 4:30 p.m. Anas Awan Phenome-wide association study of MTHFR variant in UK Biobank and All of Us 1086W Amy Bentley G6PD deficiency masks the diagnosis of abnormal glucose tolerance: … of frequency criteria for secondary findings genes to improve classification concordance 3069W Brynja …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… recognition, having earned a Ph.D. from Delft University of Technology, Netherlands. Dr. Mullikin first began to apply these skills to the genomics field in 1997, just as … subjects with high and low levels of coronary artery calcification. The list of projects like these continues to …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… Hundred Thousand Cohort Consortium (IHCC) . Prior to working on IHCC, she was the lead program director for the … of a candidate locus associated with peripheral arterial disease. Journal of Medical Genetics , 47(1):1-7. … Reduced neutrophil count in people of African descent is due to a regulatory variant in the duffy antigen receptor for …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with … Personalized Learning Platform for Genomic Medicine’ to promote health providers’ knowledge about genomic …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism … Mosaicism refers to the presence of cells in a person that have a different genome from the … from the body’s other cells. This difference could be due to a specific genomic variant, for example, or the …
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… training and career development opportunities in support of its research mission which is to accelerate scientific and medical breakthroughs that … (R01 Clinical Trial Not Allowed): PAR-25-228 Application Due Dates: New: February 5, June 5 – 2025, 2026, 2027 …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the … Altogether, rare diseases affect an estimated 25 million to 30 million Americans. … There are more than 6,800 rare … diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… from glutaric aciduria type I - at the time, and still to date, a rare genetic disease with no known cure. Today, Dr. McGuire is one of the world's leading experts in the disease, and, armed … of metabolism" (IEM). Patients with IEM have an inherited deficiency of a required protein (or proteins) needed to keep …