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- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… sometimes with little warning. There is no cure for any type of MMA, but special diets, vitamin therapies and in some … care. … To enroll in our study, a person must: Be between 2 and 70 years of age. Be able to travel to and be admitted … Have a diagnosis of mut, cblA, cblB, cblC, cblD, or cblF type MMA based on complementation status determination in …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… Presenter Title Board # Wednesday, November 6, 2:30 – 4:30 p.m. Anas Awan Phenome-wide association study of … exacerbated in individuals of African ancestry with Type 2 diabetes 5169F Tam Tran Efficient large scale PheWAS analysis …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… the blood to an energy source for the body. In people with diabetes, the body stops making and/or stops responding to … cell model not only because beta cells are relevant to diabetes but also because researchers can observe the dynamic … to help control the disease. It’s the missing piece in the diabetes puzzle.” The work being done by Dr. Carter and …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… one half of individuals who have WAGR syndrome develop a type of kidney cancer called Wilms' tumor. In the early … with WAGR syndrome may have a higher risk for a type of cancer called gonadoblastoma, a cancer of the cells …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Ng, Alisa Manning Development of Polygenic Risk Scores for Diabetes and Complications Across the Life-Span in …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically … diet and exercise plans to prevent or delay the onset of type 2 diabetes in people who carry genetic predispositions to …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… Morris AP, Zeggini E. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature . 627(8003):347-357. 2024. [ …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… variants, variant annotation, and specific traits (lipids, diabetes/obesity, CHD/ECG, cancer, hypertension/kidney, … on cancer, cardiovascular disease, lipids, obesity, type 2 diabetes, menopause/menarche, the Metabochip and …
Research at NHGRI
The Division of Intramural Research conducts scientific studies in NHGRI's labs on and around the NIH campus in Bethesda, Md.
… disease genes, including those implicated in cancer, diabetes, premature aging, hereditary deafness, various …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.