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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… … One of the most common childhood neuropsychiatric disorders, ADHD is highly heritable - meaning that genes play … Deficit Hyperactivity Disorder, ADHD, inherited brain disorders, Phillip Shaw Ph.D., Social and Behavioral Research …
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
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… even in families where more than one individual has this predisposition. This is why it is often helpful to discuss … the double lobes of the cerebral hemispheres. … Genetic Disorders …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… problems, and repetitive behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, …
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. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… those who carry only one mutation in this gene may have a predisposition to develop adult onset stroke. They also … beginning early in childhood. ​ … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …
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. … The diagnosis of Gaucher disease is based on … glucocerebroside cannot be adequately degraded. … Genetic Disorders …