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FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… (OXPHOS). OXPHOS occurs in microscopic factories in the cell called mitochondria and extracts energy from food … Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… National Institutes of Health researchers have discovered a rare and sometimes … identified anti-inflammatory treatments that ease some of the patients' symptoms: fever, skin rashes, diarrhea, … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
… Genetic Information Nondiscrimination Act (GINA) … The Genetic Information Nondiscrimination Act (GINA) is … unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and … Genetic Information Nondiscrimination Act, GINA, Federal …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… A major goal of human genetics is to decompose the sources of trait variation into constituent causal … about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These … To support research into the genetic architecture of complex human traits through …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from … a research program focused on using genomic tools and genetic manipulation of model systems to decipher genome … His primary areas of interest include the development and diseases of melanocytes, the cells responsible for …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… David Conti, Alaina Vidmar, Tanya Alderete University of Southern California Longitudinal integration of environmental exposures, omics, and childhood NAFLD (LEON) … Sofer University of Illinois at Chicago Multi-Omics at the Intersections of Environment, Diabetes, and Kidney …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… The National Institutes of Health (NIH) announced today that Baylor College of Medicine in Houston and the Medical College of Wisconsin … will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will receive more than $2.5 … Genome sequencing for patients from the NIH Undiagnosed Diseases Program (UDP) has identified individual variation in …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and social determinants of complex diseases. … and interpret the non-random distribution of human genetic variation, as well as to understand human history and …
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 (NIH), has opened an … diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they … paper-and-mail application process for the NIH Undiagnosed Diseases Program (UDP), which is now part of the UDN. …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome. … scientists from many different countries building a body of knowledge over a period of more than 100 years. Students …