Search Results
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… genetic testing, such as for a condition like Down syndrome, had to undergo invasive procedures to get a fetal … an abnormal number of chromosomes, such as a trisomy. Down syndrome is a trisomy of chromosome 21, and NIPT for detecting Down syndrome and other chromosomal abnormalities is being widely …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
… deletion) in a patient with autism, OCD, and overgrowth syndrome . Am J Med Genet A . 2107 Jun; 173(6):1656-1662. …
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 …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… is a group of rare genetic conditions that include Noonan syndrome, Cardio-Facio-Cutaneous syndrome, Costello syndrome and Legius syndrome. Eight of 16 genes for epilepsy …
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 …
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 …
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 …
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 …
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 …