Search Results
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… or to affect anticoagulant (anti-clotting) therapy. Skin Disorders Certain skin conditions have also been observed in … which the skin tissue dies). Stroke and Other Neurological Disorders Stroke is associated with APS, as are some other … stream, causing embolic events. Lupus and Other Autoimmune Disorders APS is classified within the category of autoimmune …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… Autism represents a broad group of developmental disorders characterized by impaired social interactions, … Autism - or more precisely the autism spectrum disorders (ASDs) - represent a broad group of developmental disorders characterized by impaired social interactions, …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… (NHGRI) Division of Intramural Research and head of the Inflammatory Disease Section at NHGRI.  From L to R: Dan … del Aguila III, NHGRI  Dr. Kastner, who specializes in inflammatory conditions, was contacted by Rohith's doctor in … inhibitor, prescribed worldwide to treat inflammatory disorders such as rheumatoid arthritis or inflammatory bowel …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… Genetic Disorders …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the … to find the variants and genes underlying Mendelian disorders. … genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… of A20), a disease that may be associated with inflammatory liver disease and is investigating medications … Stone D , Sidransky E. Hydrops fetalis: Lysosomal storage disorders in extremis . Adv Pediatr , Vol. 46, 1999, 409-40. … Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section. …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… increased risk of developing Parkinson disease and related disorders. … Genetic Disorders …