Search Results
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 …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being investigated. However, they do fully review …
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 …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Jeannine Mjoseth … National Institutes of Health researchers have discovered a rare and sometimes … (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… Raymond MacDougall … The National Institutes of Health (NIH) announced today that … will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will receive more than $2.5 …
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 … development of technology to scientific progress. … The genetic timeline activity may be most effectively done at the …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of Health (NIH), has opened an …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… Sheena Faherty, Ph.D. … The National Institutes of Health will fund a set of genome … understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute …
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 …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… Amy Bentley … Over the past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As part of this reorganization, the Center for Research on Genomics …