Search Results
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 … (UM1), Clinical Trial Optional RFA-HG-24-026 Application Due Date(s): November 15, 2024, August 1, 2024, July 31, 2026 …
Fact Sheet
Currently, there are different gene therapy approaches available through clinical trials.
… that carries oxygen. Red blood cells need hemoglobin to deliver oxygen to your body’s organs and tissues. Every red blood cell contains thousands of hemoglobin molecules.  The genes in our body code for … A. Instead of hemoglobin A, the body makes hemoglobin S due to a genetic variant . While hemoglobin S still delivers …
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 …
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 …
Leadership Initiatives
NHGRI will play a crucial role in the NIH UNITE initiative to promote equity, diversity, and inclusion in genomics.
… has been vocal about the far-reaching consequences of structural racism in biomedical research. NHGRI has a central role in helping to envision how an end to structural racism would look in our … Equity (U01 Clinical Trial Allowed) Letter of Intent Due Date: 4/28/2021 Application Due Date: 5/28/2021  …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… rare diseases research in Africa Sean David University of Chicago Integrative Analyses of Clinical Pharmacogenetic Data to Prevent Hospital Readmission in Real-World Health Systems … Research (R01 Clinical Trial Optional) Application Due Date(s): December 01, 2023, July 08, 2024, February 11, …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia. … Thalassemia is … of fetal hemoglobin will compensate for the patient's deficiency of adult hemoglobin. … Blood tests and family …