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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- 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
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… concern, with approximately ten percent of the world's population diagnosed with the disease or likely to develop it in their lifetime. Previous studies into the genetics of diabetes risk have identified … is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… the mutant pyrin in FMF might be helping the Mediterranean population in some way," said Jae Jin Chae, Ph.D., senior … selection for FMF mutations in the Mediterranean population. The team turned to Yersinia pestis , the infamous … selection for FMF mutations in the Mediterranean population. It turns out Yersinia pestis contains a …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… inflammatory markers and immunologic and hematologic studies Genetic testing (see separate FAQ ) Urine studies Skin biopsy Consultations from NIH specialists, such … ophthalmology, or audiology Radiographic or imaging studies Electrocardiograms Diary of fevers and other clinical …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… with the incidence being higher in the Ashkenazi Jewish population. Classification of Gaucher Disease There is a wide … of GD in the United States and in the Ashkenazi Jewish population. Symptoms vary widely with many patients remaining … of research of our team. … Ongoing, currently recruiting: Studies of Genetic Heterogeneity in Patients with Lysosomal …
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
Clinical Research
A study for patients with unexpected genetic results
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… we have a match. We may also be able to conduct functional studies in our lab to evaluate novel findings. Please reach …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… Review Committee (PRC). The PRC ultimately selected two studies based on clinical importance, feasibility of …
Diversity Center
The Morehouse School of Medicine established the Center of Genomic Diversity that aims to create a transformative impact on genomics research and health outcomes in minority populations, fostering an inclusive and equitable research environment.