Search Results
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… Galarreta CI , Vaida F, Bird LM. Patterns of malformation associated with esophageal …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… cell disease, identified novel genes in the development of congenital cardiovascular disorders and rare Mendelian … Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… of the gene responsible for Alagille syndrome (AGS), a congenital disorder characterized by paucity of bile ducts in … a rare recessive disorder characterized by debilitating congenital abnormalities, life-threatening bone marrow …
News Release
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… which genetic variations were associated with, let's say, congenital cataracts, you'd analyze it against one marker, … we did map things, my very first paper mapped a form of congenital cataracts to a region on chromosome 1. My biggest …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Severe curvature of the spine (scoliosis). Enlargement or malformation of other bones in the skeletal system. Symptoms …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… genes in NF1-associated plexiform neurofibromas (PNs), congenital tumors affecting up to 50 percent of people with …