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News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations. But this can only be done by … are missed to advance not only the understanding of disease within those populations, but also for humans across …
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 for finding potential disease-causing gene variants in undiagnosed patients. The … variants specific to certain ethnicities and populations, rare disease genes and raw data error corrections. Many of …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at birth in 1 in 400 to 1 in 1,000 …
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
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
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 analysis of “multi-omic” data for human health research. Multi-omics refers to a research approach that …
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.
… Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical … Published in March in the peer-reviewed journal BMC Medical Research Methodology , the results may advance physicians’ … The researchers used type 2 diabetes mellitus (T2D) as the disease model for their study. An estimated 30 million people …
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 …
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. … world in an environment devoted exclusively to biomedical research. In addition, during their tenure in the program, …
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 … a primary focus of this study, we are investigating the disease as a whole and studying the wide range of …