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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease. The gene that … exhibit signs of the disease if there are triggers such as diabetes or alcoholism. … Hemochromatosis is one of the few … Hereditary Hemachromatosis HGARD: Hemachromatosis type 1 … What do we know about hereditary hemochromatosis? … …
MINC
Use the resources to help you design an education program or policy for your setting.
… program or policy for your setting. Resource Title Type Cost Action Plan Instruction Presentation Slides Free … Flyer Free Texas Health Presbyterian: Family History & Diabetes Flyer Free Texas Health Presbyterian: Genetic …
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 …
File
… Collaborators Griffin Rodgers, M.D. National Institutes of Diabetes and Digestive and Kidney Diseases, NIH Project: … Whole Exome Sequencing of Multiplex Families for T ype 2 Diabetes; Whole Genome Methylation Analysis in African … Research Institute, NIH Projects: Genetic Studies of Type 2 Diabetes; 2q Deletion Syndrome; Genetics of Childhood …
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 …
The Genomics Landscape
In 2022, The Genomics Landscape spotlighted genomic data sharing each month in a series of entries. This page contains a collection of each of those entries.
… … From The Genomics Landscape Originally published: June 2, 2022 Finding a needle in a haystack is never an easy … “The FUSION Study: Mapping Genes for Non-Insulin Dependent Diabetes Mellitus - Tissue Biopsy Study” is a long-term, … effort to identify genomic variants that predispose to type 2 diabetes. Nearly 60 other researchers have used this …
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 …
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… or manage IBD," said Huttenhower. Preemptive strike: Type 2 diabetes in its early stage Type 2 diabetes (T2D) is nearing …
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 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 …