Search Results
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a … forms of these diseases, as well as other neurological disorders. Because carpal tunnel syndrome affects the hands … - Genetics Home Reference National Organization for Rare Disorders (NORD) Online Mendelian Inheritance in Man  …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… retina (the light-sensitive part of the eye). … Genetic Disorders …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… person who has WAGR syndrome depend on the combination of disorders that are present. Wilms' tumor: About one half of … include: Developmental, behavioral, and/or psychiatric disorders including autism, attention deficit disorder, obsessive compulsive disorder, anxiety disorders, and depression. Early-onset overweight (obesity) …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… that affects the muscles and other body systems. … Genetic Disorders …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … causes tremor and/or stiffness in movement … Genetic Disorders …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In … characterized by dramatic, premature aging. … Genetic Disorders …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … the care and clinical research of patients with metabolic disorders. The residency program includes many didactic … in the medical management of patients with metabolic disorders. They diagnose, manage and counsel outpatients and …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… caused by a mutation in the FMR1 gene. … Genetic Disorders …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… better methods to detect, prevent and treat genetic disorders. NHGRI is part of the National Institutes of … and chief of the NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. He has designed and led … better methods to detect, prevent and treat genetic disorders. … NHGRI has selected Charles Rotimi, Ph.D., as the …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… Association - Cholesterol National Organization for Rare Disorders Online Mendelian Inheritance in Man eMedicine … at birth and heart attacks at an early age. … Genetic Disorders …