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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
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)1
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.
… to the studies of propionic acidemia. This protocol-based study enabled novel insights into the spectrum of clinical …
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 … NHGRI Scientific Director Dan Kastner, M.D., Ph.D. "This study is an important step in developing gene therapies that … gene therapy applications. But one prior study did find an association between AAV and the occurrence of liver cancer. …
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 … of pieces. It is sometimes considered routine due to the wide availability of short-read sequencing. However, no … essentially to perfection. These breakthroughs allowed the study of previously invisible human genomic regions, …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… NHGRI Communications and Public Liaison Branch … A new study highlights how genomic mutations that cause … M.D., senior author and investigator at the National Human Genome Research Institute. Related Resources Cytochrome c … Training docs to be researchers, too... The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… 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 … Kay MA, Barzel A, Venditti CP. Promoterless, nuclease-free genome editing confers a growth advantage for corrected …
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 … . … Stronger Messages Means Smaller Portions "In this study, we found that individuals who received the strongest … most effective ways to deliver genomic information. In the study, 221 overweight or obese mothers entered a virtual …
News Release
The Social Genomics Project aims to understand what people around the world think about the intersections between genomics, genetics and society.
… . Today, researchers with the National Human Genome Research Institute (NHGRI) are harnessing the power of … * to invite fans and followers to participate in the study. The hashtag, #your2cents helps brand the effort. "Much … 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.
… Steven Benowitz … 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 …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… Steven Benowitz … A new study by National Institutes of Health researchers has turned … Metabolic Genetics Branch (MGMGB) at the National Human Genome Research Institute (NHGRI) and corresponding author of … and bioinformatic challenges facing individualized genome sequencing in a clinical research setting. Once they …
News Release
The largest genomic study on type 2 diabetes in Africans to date has recently been published in Nature Communications and reports the most recent findings of the ongoing Africa America Diabetes Mellitus (AADM) study that has been led by Dr. Charles Rotimi for over two decades.
… Amy Bentley … The largest genomic study on type 2 diabetes in Africans to date has recently … of the ongoing Africa America Diabetes Mellitus (AADM) study that has been led by Dr. Charles Rotimi for over two decades. … The present study, co-first-authored by Dr. Adebowale Adeyemo of …