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Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy program led by Dr. Cynthia Tifft. … Her main area of … investigator and a pediatric neurologist with the GM1 gene therapy trial, she is applying this background by …
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 have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… their support networks navigate emerging developments in gene therapies for sickle cell disease. … New educational … to help the sickle cell disease community learn about gene therapies for the disease are now available from … The Democratizing Education for Sickle Cell Disease Gene Therapy Project, led by Vence Bonham Jr., J.D., NHGRI acting …
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, …
Policy Issues
Scientific institutions are developing recommendations to support the responsible use of human gene-editing research.
… genome-editing research. … In light of recent advances in gene-editing research and technologies, the National … decision making for the responsible use of human gene-editing research. This initiative examined the clinical, … of gene editing, germline modifications, somatic cell therapy, societal implications, international perspectives, …
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 …
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 … of the genome that contributes to the differences in gene expression between genes and between individuals. …
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. … …