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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
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 … are associated with clots in the arteries and veins. … Genetic Disorders …
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, … or there is a family history of relatives with autism, genetic testing such as chromosome analysis and single-gene … and sisters will also have autism depends on the specific genetic cause. Additional Resources for Autism National …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … Cri du … material on the the p arm of chromosome 5. … Genetic Disorders …
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.
… families. There are a number of causes of HPE, including genetic alterations and environmental effects. The cause of … into the double lobes of the cerebral hemispheres. … Genetic Disorders …
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.
… sophisticated technologies to diagnose, monitor and treat genetic conditions. Artificial intelligence tools , which … , find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers at 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. … The diagnosis of Gaucher disease is based on … called glucocerebroside cannot be adequately degraded. … Genetic Disorders …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… FMO3 gene. Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. Not all of the functions of … experience, researchers think that different genetic mutations in FMO3 can influence the symptoms of the … An electronic catalog of human genes and genetic disorders, developed by the National Center for Biotechnology …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… in the family, the NIH group did not at first suspect a genetic cause, and treated the patient with immunosuppressive … by her sixth birthday-they began to suspect a common genetic cause and embarked on a medical odyssey that has led … beginning early in childhood. ​ … Childhood stroke, rare disorders, blood vessel inflammation, CECR1 gene, deficiency …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience in … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… methods and approaches that help researchers identify the genetic causes of single-gene diseases. Over 400 million … with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the teams will …