Search Results
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… or undiagnosed conditions . Journal of Child and Family Studies . DOI: 10.1007/s10826-023-02645-6. Zajdel M., Keller …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… level of independence. We will explain the need for those studies to you (your child). They may include imaging studies such as a DEXA or MRI scan, energy expenditure or … identifier in the search box: NCT01780168. To find all studies related to inborn errors of metabolism, type "inborn …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… How to Register Controlled-Access Studies  Study registration in dbGaP is required for large-scale human genomic studies, including those submitting data to AnVIL and studies with an Alternative Data Sharing Plan.  Follow the … for data sharing that are specific to NHGRI-supported studies. The NHGRI Data Sharing Governance Committee oversees …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… mixed genetic lineages, researchers at the National Human Genome Research Institute (NHGRI), part of the National … as admixture. As such, the results from previous genome-wide association studies that do not account for admixture in … Previous genetic association studies involving people with European ancestry …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… Researchers show critical association between diabetes and previously unlinked ZRANB3 … Mellitus study, the single largest diabetes genomic association study conducted on the continent. Using the … populations. The work was funded by the National Human Genome Research Institute (NHGRI), the National Institute of …
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
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
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. … additional experiments to detect where in the mouse genome the AAV vector delivered the corrected gene and how …
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 …