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 …
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
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.
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. …
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 …
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 …
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, …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… M.D., senior author and staff scientist in NHGRI's Inflammatory Diseases Section. The Israeli researchers, whose … established the link between ADA2 deficiency and inflammatory blood vessel disease in the patients. Dan Yang, … that treatment may include specialized drugs that inhibit inflammatory proteins produced during the syndrome. Also, …