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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- 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
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated … the chance to identify a previously unrecognized risk for disease that could change the medical management of that patient and potentially prevent or more effectively treat the …
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 … slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … Autosomal dominant polycystic …
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). … 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 …
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 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.
… integration of environmental exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … NCI … NIEHS … Contributing NIH Institutes: National Human Genome Research Institute (NHGRI) National Cancer Institute …
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 …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Group  (GMWG) compiles 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 …