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News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… Health (NIH) have successfully identified differences in gene activity in the brains of people with attention deficit … how specific genes are turned on or off, also known as gene expression . They studied two connected brain regions … inch closer to understanding how genomic differences alter gene expression in the brain and contribute to ADHD symptoms. …
Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… director at the time, included a section dedicated to the “Gene Sweepstake,” pointing out that the basis of GeneSweep … was scientifically unclear — that is, what exactly is a gene? At a basic level, a gene is considered to be a region of the genome that codes …
Educational Resources
Sex linked is a trait in which a gene is located on a sex chromosome.
… Sex Linked … Sex linked is a trait in which a gene is located on a sex chromosome. … Cell, Mutation, Gene, Sex Chromosome … Sex-linked, as related to genetics, … a sex-linked disorder. … Sex linked is a trait in which a gene is located on a sex chromosome. … Educational Resources …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
… help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D. The Gene aired April 7 and 14 at 8:00 p.m. ET. The series, based … the history of science. … In this fun animated series, the gene’s complex mechanisms are explored in simple ways. … …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… were available for molecular testing, half had BRAF V600E gene mutations, which is sometimes seen in colon cancer, lung … Residency Program, accumulation of histocytes, new gene discovery … NHGRI researchers have identified new genes …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… then analyzed the data to find "putative," or presumed, mutations that would almost certainly lead to a genetic … setting. Once they identified participants with genomic mutations, researchers called them back to the clinic to give … nearly all harmless - and studied only potentially harmful mutations that were found in about 100 of the 951 …
Educational Resources
Recessive Traits and Alleles is a quality found in the relationship between two versions of a gene.
… found in the relationship between two versions of a gene. … Gene, Genotype, Inherited, Mutation, Phenotype, Allele, … an observed trait and the two inherited versions of a gene related to that trait. Individuals inherit two versions …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you … there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … … Step 2: Eligibility Your eligibility to participate in a gene therapy may depend on: Your age. Your diagnosis of …
Educational Resources
An allele is one of two or more versions of a gene.
… Allele … An allele is one of two or more versions of a gene. … Allele, Gene, Homozygous, Autosomal, Mutation, Inherit, Heterozygous, … … An allele is one of two or more versions of a gene. … Educational Resources …
News Release
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.
… … Study used a “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in …