Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… loci ( HLADQA1 and PLCG2 ) for steroid-sensitive nephrotic syndrome (PMID 25349203) were reported in his collaborative … have been reported for the common form of the nephrotic syndrome, which is the second leading cause of kidney disease … (FSGS) - PMID 24676636; showing that subjects with Alport syndrome with the characteristic mutations in COL4A3/COL4A4 …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… characterize the rate of mutations that lead to Sjögren's syndrome. Sjögren's syndrome is a chronic autoimmune disease in which the body's …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, multisystemic disease that causes …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… Neck Surgery  Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… disease in humans, including: Acquired immunodeficiency syndrome (AIDS) Viral agent: Human immunodeficiency virus …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Inborn Errors of Metabolism, cystinosis, Hermansky-Pudlak syndrome, Undiagnosed Diseases Program Fizza Gulamali-Majid, … Wendy Introne, M.D. Alkaptonuria, Chediak-Higashi syndrome Eirini Manoli, M.D., MPH Organic acidemias, Moebius syndrome Melissa Merideth, M.D., MPH Gynecologic aspects of …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… C, Sehgal A, Tozan Y, Tracey KJ, Urnov F, Wattendorf D, Williams TW, Zhao X, Hayden MR. Opportunities and challenges … Sokunbi O, Kruszka P, Muenke M, Adeyemo AA . Hajdu-Cheney syndrome with atypical cardiovascular abnormalities. Am J Med … CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Williams-Beuren syndrome in diverse populations. Am J Med Genet A . …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… disease, as well as less common conditions such as Marfan syndrome ( Learning About Marfan Syndrome ) and neurofibromatosis ( Learning About …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… and discovering the genetic basis for a recurrent fever syndrome named TNF receptor-associated periodic syndrome (TRAPS). Dr. Kastner has won numerous awards and …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… they named TRAPS (the TNF receptor-associated periodic syndrome), and proposed the now widely accepted concept of … and that the gene mutated in the dominantly-inherited syndrome of pyogenic arthritis, pyoderma gangrenosum, and … cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome. Current investigations focus on the use of genomic …