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Fact Sheet
Sickle cell disease resources for patients
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … are associated with an increased risk of common diseases such as stroke, cardiovascular disease and dementia. …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center … evaluation after acceptance in the UDP. The Undiagnosed Diseases Program pursues two goals: To provide answers to …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of … Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), the researchers plan to analyze how …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and … to improve upon the 25 percent diagnosis rate for unknown diseases," said Thomas Markello, M.D., Ph.D., the study's … on average, 6.6 faulty genes in people with undiagnosed diseases compared to 5.8 faulty genes in their healthy …
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.
… by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the Center for Research on Genomics and Global …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … to better understand the causes and development of these diseases, and to improve the ability of doctors to diagnose … and a Metabolomics Core, as part of the NIH Undiagnosed Diseases Network (UDN). In addition, six new awards fund …
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.
… manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.