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- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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 …
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… and their timing, along with new descriptors for certain population groups, may be linked to structural racism, social … . For the field of genetics, the question of what makes a population is a fundamental one. Accurately describing human … it was performed on papers in only one journal. “Future studies can dig deeper into how labels for populations …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… populations. … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… ‘omic analyses have produced valuable insights, recent studies have shown that integrative (or multi-omic) analysis …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data.
… legacy data; Summarize current approaches to the use of population descriptors in/for legacy data; Define … Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A … to make recommendations regarding the application of population descriptors to existing data. A meeting report …
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
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… results for many of the variants which other research studies have already implicated in T2D in mostly European … may influence the impact of a gene on disease in a given population. “The findings of this study further demonstrate … novel discoveries that will not only help the specific population but also people all around the globe,” said Dr. …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… monitor the genomic evolution of cancer from a pre-cancer population in real time. The aim is to better understand how …