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Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
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 …
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 …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
File
… Mayo Clinic 19,000; 93.5% EA 6,934 (38% female) Peripheral arterial disease, RBC indices, CHD, VTE, cardio respiratory …
Fact Sheet
Diversity among genomics research participants is essential for improving the health of everyone.
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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… of a candidate locus associated with peripheral arterial disease. Journal of Medical Genetics , 47(1):1-7. … enzyme associated with lower extremity arterial disease in the health, aging and body composition …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.