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Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… severity of the individual symptoms and include autistic disorder (sometimes called classical autism), Asperger's … 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
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels of multiple … antibody syndrome and sometimes Hughes syndrome, is a disorder characterized by elevated levels of multiple … are associated with clots in the arteries and veins. … Genetic Disorders …
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 … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing …
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 … Dr. Shchelochkov is interested in a rare metabolic disorder called propionic acidemia, which affects one in …
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.
… as well as other birth defects. Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the … 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
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 … Sequencing … Related Content … NIH team discovers genetic disorder causing strokes and vascular inflammation in …
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 … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … … Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … 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 … ​ … Trimethylaminuria, Trimethylamine, FMO3, Genetic Disorder, Genetic Condition, Genetic Disease, Treating A …
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 … increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the teams will … research community to tackle challenging diseases whose genetic causes were eluding identification by …