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… welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to … They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to use …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and investigate the health consequences of their genes and gene variants. … Reversing a Long-Standing Paradigm To … them to recall genotyped people and examine the genes and gene variants' influence on their phenotypes, an individual's … traits or symptoms and then searching for genes or gene variants that cause or contribute to them. NIH will …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis. … In a sun-lit conference … after Jojo attended the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… is an inherited condition caused by alterations in the GBA gene. It affects one in every 50,000 to 100,000 people, but … called Gaucher disease. … Gaucher disease, drug therapy for Gaucher disease, Ellen Sidransky Ph.D., GBA gene alterations, glucocerebroside accumulation … A team from …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… of Cardiovascular Disease in Africans Americans Study (GENE-FORECAST®) study is developing a community-based cohort … ancestry-related genomic variation in African-Americans. … GENE-FORECAST® will test the working hypothesis that … of these putative functional DNA variants of interest. GENE-FORECAST® Study Flyer … You will be able to participate …
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
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
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
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. … …