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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). … in microscopic factories in the cell called mitochondria and extracts energy from food and other sources. Because mitochondria are found in nearly …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… all applicants due to the complex nature of the body and the diseases being investigated. However, they do fully … (UDP) was organized and established by the National Human Genome Research Institute (NHGRI), the National Institutes of … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … to the work were researchers from the National Human Genome Research Institute (NHGRI), the National Institute of …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Group  (GMWG) is compiling a list of interesting advances and helpful educational resources in genomic medicine. To … for specific publications by title, author, category and/or by date range.  For an explanation about the selection … Of Genomics, Pharmacogenomics, Oncology Sequencing, Disease-based Findings … The NHGRI Genomic Medicine Working …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… The Gateway replaces what had previously been a paper-and-mail application process for the NIH Undiagnosed Diseases … of NIH's Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI), which provides financial … Additional information about NHGRI can be found at www.genome.gov . … A Streamlined Application Process … Related …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… MacDougall … Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed … M.D., of the National Human Genome Research Institute and Robert C. Green, M.D., M.P.H., of Brigham and Women's … DNA and a reference sequence for the human genome. These variants may point to the cause of the patient's disease. In …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Since then, it has expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … or localized inflammation, without evidence of infection and without the high antibody titers or antigen-specific …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… across the United States on top of the illness, death, and physical isolation that we have been experiencing … the COVID-19 pandemic, including those at the Centers for Disease Control and Prevention (CDC) and NIH . For NIH … up to the 30th anniversary of the launch of the Human Genome Project in October 2020. I encourage you to check out …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child …