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A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… Genome-Wide Association Studies, GWAS, DNA, Genome, Gene Expression, Gene Variation, Personalized Medicine, Gene Variant … that are statistically associated with a risk for a disease or a particular trait. The method involves surveying … that occur more frequently in those with a specific disease or trait compared to those without the disease or …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to find genetic variations associated with a particular disease. … to find genetic variations associated with a particular disease. Once new genetic associations are identified, researchers can use the … for genetic variations that contribute to the onset of a disease.  …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … were available for molecular testing, half had BRAF V600E gene mutations, which is sometimes seen in colon cancer, lung …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for … set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for … Prolonged high blood sugar levels can lead to heart disease, kidney disease and vision loss. Currently, diabetes …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… with genomic differences in the semaphorin-4D ( SEMA4D ) gene were about 6 pounds heavier than those without the … person's risk of developing diabetes, hypertension, heart disease and some cancers. While obesity mostly results from … SEMA4D in obesity and obesity-related traits. (The SEMA4D gene plays a role in cell signaling, the immune response and …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… including the prevalence and severity of chronic kidney disease, short stature, dilated cardiomyopathy and … therapies in propionic acidemia, specifically systemic AAV gene therapy, a lead indication for the Platform Vector Gene Therapy (PaVe-GT) program. Currently, Dr. Shchelochkov …
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 disease similar to one in humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such … acidemia (MMA), propionic acidemia (PA), and Niemann-Pick Disease, Type C1. His preclinical proof-of-principal studies …