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News Release
Facial recognition software helps diagnose rare genetic disease
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … interventions and provide better medical care. "Human malformation syndromes appear different in different parts of the world," …
Genetic Disorders
About Klinefelter Syndrome
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
Genetic Disorders
About Turner Syndrome
Turner syndrome is a chromosomal condition that alters development in females.
Educational Resources
Down Syndrome (Trisomy 21)
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
Genetic Disorders
About Antiphospholipid Syndrome
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
Genetic Disorders
About WAGR Syndrome
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
Genetic Disorders
About Cri du Chat Syndrome
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.
News Release
Scientists use clues in the human genome to discover new inflammatory syndrome
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… genes to disease diagnosis. Researchers from the National Human Genome Research Institute have discovered a new … Harry Wedel, NHGRI.   Researchers at the National Human Genome Research Institute (NHGRI), part of the NIH, and … classification of inflammatory diseases. … The National Human Genome Research Institute (NHGRI)  is one of the 27 …
Educational Resources
Fragile X Syndrome
Fragile X syndrome is a hereditary disorder affecting mostly males.
News Release
Cancer drug reduces pain, improves symptoms in people with Proteus Syndrome
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
… determine the correct dose of the medicine. NIH's National Human Genome Research Institute (NHGRI) researchers and … the findings Feb. 21, 2019, in the American Journal of Human Genetics . … "We discovered that a much lower dose of …