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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
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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 …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
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 …
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. … …
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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… disease is an inherited disorder caused by a change in the gene that produces hemoglobin, the red blood cells that carry … the U.S. Food and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating … disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical process Dr. Tifft, a geneticist at the …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… It is important to understand the components of gene therapy, how these components differ and other treatment … cells to reduce your symptoms of sickle cell disease. Gene therapies use your own stem cells, while bone marrow transplants use the stem cells of a matched donor. Gene therapy In gene therapy , your stem cells are changed …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… actions you may want to take as you think about receiving gene therapy. … There are many unknowns about what to expect from gene therapy. Your thoughts, feelings, beliefs and attitudes … care for your mental and physical health as you consider a gene therapy clinical trial. Focus on your thoughts and …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 publications …