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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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.