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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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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.
… The study, led in part by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, will inform future studies on the early detection and treatment of diabetes. The … and senior author of the study. “The majority of prior studies have been in rodents or in islet-like groups of cells …
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.
… aciduria. By combining clinical and biochemical studies, he and his colleagues demonstrated beneficial effect … a new natural history protocol dedicated to the studies of propionic acidemia. This protocol-based study …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene therapy for humans. Researchers at the National Human Genome Research Institute (NHGRI), part of NIH, published … gene therapy applications. But one prior study did find an association between AAV and the occurrence of liver cancer. … when the disease progresses. In prior MMA gene therapy studies, researchers showed that mice bred to develop the …
Staff
Dr. Sergey Koren is an associate Investigator in the Genome Informatics Section of the Center for Genomics and Data Science Research.
… Ph.D. … Dr. Koren is an associate investigator in the Genome Informatics Section, Computational and Statistical Genomics Branch at the National Human Genome Research Institute. After completing his M.S., Dr. … of pieces. It is sometimes considered routine due to the wide availability of short-read sequencing. However, no …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… M.D., senior author and investigator at the National Human Genome Research Institute. Related Resources Cytochrome c …
News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… to European populations in two public databases, the Genome-Wide Association Study Catalog (GWAS) and the database of …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… Disease, Type C1. His preclinical proof-of-principal studies using MMA murine models have helped enable two … mRNA therapy and the other, AAV-mediated nuclease-free genome editing. In addition, he is a member of NCATS’s … gene therapy approaches, such as AAV gene delivery, genome editing, and mRNA therapy, to cure rare genetic …
News Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
… to make healthier choices. The findings, by National Human Genome Research Institute (NHGRI) researchers, were published … approach to assess research participant behavior in future studies using the VR buffet. "We hope that this work will …
News Release
The Social Genomics Project aims to understand what people around the world think about the intersections between genomics, genetics and society.
… have encountered opportunities to participate in research studies through your healthcare provider, patient advocacy … . Today, researchers with the National Human Genome Research Institute (NHGRI) are harnessing the power of … the Social Genomics Project. "Now we are trying to get a wide representation of people, and social media can help us …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… … A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional … The current standard "best practice" in some clinical genome sequencing laboratories requires positive NGS findings … more accurate than newer methods." In addition, several studies in recent years have suggested that NGS can identify …