Search Results
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… Patients with genetic disorders and members of the public, both in the … germline genome editing should be used to prevent or treat genetic disorders. … Patients, patient advocates, and families of patients with genetic disorders have diverse views on whether germline …
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 … become the most commonly diagnosed childhood developmental disorder. According to the Centers for Disease Control … Of children being diagnosed now with an autism spectrum disorder, about half will have intellectual disabilities …
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. … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome …
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 … have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of … families. There are a number of causes of HPE, including genetic alterations and environmental effects. The cause of …
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 … are so mild that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 …
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 … compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how …
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 … (OMIM) [omim.org] An electronic catalog of human genes and genetic disorders, developed by the National Center for …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genetic testing is the use of a laboratory test to examine an …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic Information Nondiscrimination Act, DNA, Healthcare … Genetic discrimination. Genetic discrimination refers to the …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… clinical profiles of people with RUNX1 familial platelet disorder. … family.  However, when one of Emily’s relatives underwent genetic testing for an unrelated condition, they were told … of a gene called RUNX1 that was associated with a platelet disorder.  The pieces started to come together for Emily. …