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Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of … Marfan patient(also known as genetic linkage to the gene). The FBN1 gene is the gene associated with the true Marfan syndrome. …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… Genetic Disorder, Genetic Disease, Genetic Condition, Gene Mutation … The Attention Deficit/Hyperactivity Disorder …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… Disorder, Genetic Disorder, Genetic Condition, Gene Mutation … Attention Deficit Hyperactivity Disorder …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… may affect a disease condition. Investigation of gene function is a critical step in the process leading to … or new diseases. Recipients of the new NIH awards to study gene function (pending available funds) are: Baylor College … the function of a mutation in the FRMPD4/Preso1 gene that is thought to be responsible for neurological …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… the potential disease-causing effects of approximately 200 gene variants per year that are thought to be involved in … modify the zebrafish and fruit fly to study the gene variant in question. They add a human gene variant or turn off the gene activity of a similar …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… isolated methylmalonic acidemia have mutations in the MUT gene. This gene provides instructions for making an enzyme called … certain lipids, and cholesterol. Mutations in the MUT gene alter the structure or reduce the amount of the enzyme, …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… medical records in genomic research studies to understand gene-disease associations. A large number of samples in … and included: Genetic variants of FTO , an obesity-related gene. An electronic medical record-based, phenome-wide … new disease associations for genetic variants of FTO , a gene related to obesity in adults. Joshua Denny, M.D., …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to see a 20-minute preview of the “Ken Burns presents The Gene: An Intimate History” documentary. Specifically, on Feb. … and feature patient voices … Special preview of “The Gene” documentary at 2020 AAAS Annual Meeting … NHGRI to host … in Genomic Science (CEGS), Rare Disease Day, The Gene, South by Southwest … In the January 2020 edition of The …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a new change due to an error carried by … with Noonan syndrome have mutations in the PTPN11 gene. Twenty percent of those with Noonan Syndrome have …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… with genomic differences in the semaphorin-4D ( SEMA4D ) gene were about 6 pounds heavier than those without the … SEMA4D in obesity and obesity-related traits. (The SEMA4D gene plays a role in cell signaling, the immune response and … that can be activated to increase the work of a particular gene, he said. They plan to conduct larger studies of DNA …