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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
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 …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… … ADHD often appears to run in families, and research studies have suggested that there may be a genetic component … to participating families. As with all of our research studies, participation is completely voluntary. You may …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… Prabarna Ganguly, Ph.D. … Researchers show critical association between diabetes and previously unlinked ZRANB3 … results for many of the variants which other research studies have already implicated in T2D in mostly European … 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 …
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
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… 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 … … Genetic mutations and disease, predictive medicine studies, Leslie Biesecker M.D., genetic mutations in healthy …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … had to look at the enhancer sequences within the zebrafish genome.  If transcription factors are thought of as the keys … The study, led by investigators at the National Human Genome Research Institute (NHGRI), may inform the development …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… from person to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from … fungi and viruses living in and on all humans), the genome (all the genes in a person), and the social and … Severity of SCD Symptoms … Related Content … New NIH studies seek adults and families affected by sickle cell …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… heart attack and stroke). Based on previous epidemiology studies, it is anticipated that the prevalence of clinically … proband may also be invited to participate in these G2P studies to further characterize the biological significance … Coordinator National Institutes of Health National Human Genome Research Institute (NHGRI) Genomics of Metabolic, …