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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.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes … determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also …
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.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … Diseases Network , which brings together clinical and research experts to solve the most challenging medical … variants specific to certain ethnicities and populations, rare disease genes and raw data error corrections. Many of …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… New research consortium will develop innovative strategies for … of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded … and cellular processes involved in human health and disease, including untangling genetic and non-genetic factors …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… Ganguly, Ph.D. … Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical … The researchers used type 2 diabetes mellitus (T2D) as the disease model for their study. An estimated 30 million people … chronic diseases to treat. T2D is known as a complex disease because its development depends strongly on a …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… The Center for Research on Genomics and Global Health (CRGGH) uses genomic … and statistical models to gain fundamental insights into disease etiology, differential distribution of disease, and … SCARVAsnp is a C language program developed to detect rare variance within a given region. Briefly, it is …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … diagnoses and potential treatments for patients with these rare or new diseases. Recipients of the new NIH awards to … The goals of the program are to investigate compelling research questions that the study of undiagnosed conditions …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of Health … at the National Institutes of Health. The NHGRI Extramural Research Program supports grants for research and training and career development at sites …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle cell disease in adults by looking at many factors, including … Cell Disease Sickle Cell Trait National Human Genome Research Institute - Learning about Sickle Cell Disease …
Research Training
An opportunity for recent college graduates to spend a year engaged in biomedical research in NHGRI laboratories.
… The Post-Baccalaureate Intramural Research Training Award (Post-Bac IRTA) provides the … in biomedical investigation in National Human Genome Research Institute laboratories. … While in this program, … world in an environment devoted exclusively to biomedical research. In addition, during their tenure in the program, …