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Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… decline from more common causes, genetic diseases and congenital birth defects disproportionately add to the public health burden. Genetic and congenital birth defects impose tremendous personal and … diagnose and treat hundreds of inherited diseases and congenital birth defects, alleviating the burden these …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… regulatory as the cause for autosomal dominant hereditary congenital facial paresis, type 1 (HCFP1). … Tenney AP, Di … rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis . Nat Genet . 2023 … FS, Manoli I . Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
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 …
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.
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 …
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 …