Search Results
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Nichols WC, Kodama M, Meyrick BO, Ross DJ. Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… MT , Banks M, Heffer A, Silva AC, Koretsky A, Theodore WH. Arterial spin labeling demonstrates that focal amygdalar …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
File
… Mayo Clinic 19,000; 93.5% EA 6,934 (38% female) Peripheral arterial disease, RBC indices, CHD, VTE, cardio respiratory …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
Fact Sheet
Participation in genomics research is essential for improving the health of everyone.
Staff
Dr. Minear is a program director in NHGRI's Division of Genomic Medicine.