Search Results

61 - 70 of 1193
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.
Educational Resources
A proband is an individual being studied or reported on.