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News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives … scale used by GTEx that enabled researchers to study how gene expression in the liver might be different than in the … resource that integrates the complexity of how our genomes function in biologically meaningful ways. …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… can call attention to an otherwise missed diagnosis or gene variant that alerts the doctor whether one ultrasound or … power. To address this challenge, NHGRI is funding new grants - the Institutional Training Grant Program in Genomic … skills for applying computational tools to disease-gene discovery, patient genome interpretation and big data …
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 … at the level of genes and how they might influence cell function and give rise to symptoms. The researchers used a … how specific genes are turned on or off, also known as gene expression . They studied two connected brain regions …
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 … In this fun animated series, the gene’s complex mechanisms are explored in simple ways. …
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.
… Collins, M.D., Ph.D. 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 …
News Release
Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from harmful DNA viruses, strengthening the plant's protections.
… Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from … use in many organisms, and this latest iteration develops gene-editing for use in plants. … technologies. The recent International Summit on Human Gene Editing focused on these issues, including the concern …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… Gene Therapy … Gene therapy is an experimental technique for treating … Genetic Disease, Genetic Disorder, Gene Mutation, Cancer Treatment, Healthcare … Gene therapy is a technique that uses a gene(s) to treat, prevent or cure a disease or medical …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… of lab results with uncertain findings about whether a gene or variant is disease-causing," said Jonathan Berg, … basic questions: Is there a true relationship between a gene and disease? Does the genetic variant in a gene cause or contribute to disease? For a person who has one …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… become thickened, dense and scarred. Histiocytes normally function to destroy foreign substances and protect the body … were published in 2014. Monocyte/macrophage cell function is impaired in Erdheim- Chester Disease leading to … were available for molecular testing, half had BRAF V600E gene mutations, which is sometimes seen in colon cancer, lung …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… by which genetic changes affect the structure and function of gene products leading to human disease. … studying how genetic changes affect the structure and function of gene products leading to human disease. … how genetic changes affect the structure and function of gene products leading to human disease. …