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News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 2265T. Lynne A. Wolfe: the natural history protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital Protein Losing Enteropathy: An inborn error of … Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. (Clinical Genetics and …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… recently, his research has grown to include genetics of congenital heart defects. This collaborative study is … the collection of a rich clinical epidemiology dataset of congenital heart defects in an African population … Adeyemo AA, Okolo CM, Omotade OO. Major congenital malformations among paediatric admissions at …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye … appearance. Short stature. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye …
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 …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
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 …
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 …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… syndrome," it is an uncommon condition present at birth (congenital). For people born with PA, the breastbone portion …