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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
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… identified a treatment that significantly decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers a person's …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. Various direct-to-consumer companies are making these … Polygenic risk scores report an estimate of the measure of disease risk based on the predicted combined effects of small …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… conditions for which people with SCT are at increased risk. … The First Comprehensive Review They include pulmonary embolism , proteinuria and chronic kidney disease . Findings from this first comprehensive review of … for pulmonary embolism, proteinuria and chronic kidney disease. They also found a moderate level of evidence of …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior investigator with … People with even one mutated copy of GBA1 are at higher risk of developing Parkinson's disease, a common disorder …
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
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … of genes that have large effects on an individual's risk for developing rare diseases. These same approaches …
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, …