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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 …
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 …
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 …
Staff
Dr. David Bodine is the chief of and senior investigator in NHGRI's Genetics and Molecular Biology Branch.
… also studies erythropoiesis through the analysis of a congenital anemia known as Diamond-Blackfan Anemia syndrome … disorder associated with failed erythropoiesis and often congenital malformations and a predisposition to cancer. …
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 …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… and genetic diseases in people of diverse ancestry." Congenital malformations , also known as birth defects, are …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… porphyrias include the following types: Also called congenital porphyria. This is a rare disorder that mainly …
File
… C, Yoganathan S. a Case Report of a Child with Congenital Lymphoproliferative Disease Type 2, Presented with … N, Thewarapperuma C. a Case Report of a Child with Congenital Amegakaryocytic Thrombocytopenia. 2020. (In … NE, Ernestine Kubi EA, Akyaw PA. Systematic Review of Congenital, Genetic and Rare Disorders Reported in Ghana. …