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News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… … As researchers continue to unravel the many mysteries of genomics, they require more and more sophisticated … find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers at the … questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Dominant Disorder … Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, … is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them. …
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 … (PDD). Autism has become the most commonly diagnosed childhood developmental disorder. According to the Centers …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… (APS) is a disorder characterized by elevated levels of multiple different antibodies that are associated with … 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 …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… gene on the X chromosome. Because males have only one copy of the X chromosome, they are more likely to show severe … the mutated gene compared to females (who have two copies of the X chromosome). … Fragile X syndrome is a hereditary …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… Jeannine Mjoseth … In a new study of families affected by Attention Deficit Hyperactivity … and are linked to the disorder. … One of the most common childhood neuropsychiatric disorders, ADHD is highly heritable - meaning that genes play …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… the genetic factors that contribute to ADHD, with the hope of improving treatment for this condition in the future. … … are also believed to play a role in the disorder. One of the long-range goals of this study is to facilitate the diagnosis of ADHD and the …
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, … challenges. Symptoms usually appear before the age of three. The exact cause of autism is not entirely known, although genetics clearly …
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 state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants …