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Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art … resources of NHGRI intramural laboratories, the NIH Clinical Center and intramural collaborations across NIH, the branch is engaged in basic, translational and clinical research, bringing the latest genomic and genetic …
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 … those traits. Although the foundation of quantitative genetics was laid over a century ago, there continue to be … Webinar Series: Complex Trait Genetics Following on the heels of NHGRI’s workshop “Advances …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… of OI is made on the basis of family history and/or clinical presentation. Frequent fractures, short stature, a … and 95 percent, respectively, of individuals with the clinical diagnosis of OI. Normal biochemical and molecular … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
…  Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … genetic information about an individual as part of their clinical care. This is in contrast to strategies to improve … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics Home Reference: Neurofibromatosis Type 2 Children's …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic … Fibrosis: Your Genes, Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… National Wilms' Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify … studies. In summary, the scientists of the Cancer Genetics and Comparative Genomics Branch work in a highly … Cancer Genetics and Comparative Genomics Branch … The Cancer Genetics and Comparative Genomics Branch identifies and study …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.