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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations … and Metabolism . … A single mutation in the Gaucher disease gene, GBA1, is frequently found in patients who have …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … exposure, along with a mix of genetic and environmental risk factors, but their interaction is poorly understood. … …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … mysterious conditions. On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … missed days of work, hospital stays, lab tests, and the risk of injury from hunting for a disease. Also, what are …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate disease …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… "Ask Me Anything" (AMA). … Common diseases such as heart disease and diabetes are highly complex, with multiple factors that play into your risk of disease development. These factors - like genetics, … challenges in using that information to improve risk assessments and behavioral recommendations. In our research, …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … define otulipenia, an early-onset autoinflammatory disease. Contributing to the work were researchers from the … otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. ​ … Branch Chief Charles Rotimi, …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … as well as to understand human history and how it informs disease distribution and etiology. Through large genomic …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … cultured cells to exhibit the signature traits of the disease. Using this model, they have now tested a drug … that cause Gaucher disease were an important genetic risk factor for developing the more common disorder …