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Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
…  The International Common Disease Alliance (ICDA) was recently established as a forum … focus on enabling research and activities to move from disease-associated loci, to disease biology, and then to disease treatment. In September, … new viral vector for improved gene therapy in sickle cell disease Finding new genetic mutations amid healthy cells …
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
… Cancer Breast Cancer Prostate Cancer Type 2 Diabetes Heart Disease How to Use the Families SHARE Risk Algorithm  … Below are links to the Families SHARE disease risk worksheets. The worksheets will help you work out family … C, Koehly LM . Formative Evaluation of the Families SHARE Disease Risk Tool among Low-Income African Americans . Public …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in only a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as height. How … the genomes of thousands of people with and without a disease or trait are compared to find the chromosomal regions … of functional data and GWAS to elucidate genetic basis of disease R01 HG008140 Zhengdong Zhang Albert Einstein College …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
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). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate disease … standards for when genes and their variants matter in disease …
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 … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at birth in 1 in 400 to 1 in 1,000 …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… Common diseases such as heart disease and diabetes are highly complex, with multiple factors that play into your risk of disease development. These factors - like genetics, shared … Detecting Disease Risks … your family health history can aid in detecting unique disease risks and lead to better prevention and treatment. …
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 … structure and function of gene products leading to human disease. … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic … Genetic Disease Research Branch …