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News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… awards emanate from the recently launched Genomics of Gene Regulation (GGR) program of the National Human Genome … disease." With these new grants, researchers will study gene networks and pathways in different systems in the body, … The resulting insights into the mechanisms controlling gene expression may ultimately lead to new avenues for …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with … researchers have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations … and fatigue resistance. Because it's difficult to identify gene variants' influence on human populations over time, …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare … humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human … Journal of Clinical Investigation . … "Effective and safe gene therapies have the potential to dramatically reverse …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design … the scientific evidence from research papers to place gene-disease relationships into “definitive,” “strong,” … for the clinical genomics community regarding which gene-disease pairs have sufficient evidence to be used …
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 …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn …
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.
… Julie Coursen … 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. … The November Genome Advance … technologies. The recent International Summit on Human Gene Editing focused on these issues, including the concern …
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. …
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. … …