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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
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… he added. Ethical issues in pediatrics are often more complex than in the medical treatment of adults, said Jean … child , the pediatrician can override them. "It's a more complex analysis," said Dr. McEwen, "You've got surrogate … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
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.
… genes. … 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 seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
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. …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… (NHGRI) has produced this series of fact sheets to explain complex concepts in genomics research to a non-scientific … … Fact Sheets about Genomics … Fact sheets explaining complex concepts in genomics research to a non-scientific … X Chromosome, Y Chromosome … Fact sheets explaining complex concepts in genomics research to a non-scientific …