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- Genome Technology Program4
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
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
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
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
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 …
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 …
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, …