Search Results
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A … factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse … … Our Research … Genetic Disease Research Branch … NHGRI branch studying how genetic changes affect the …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … their team reported their findings March 20, 2014 in PLoS Genetics. The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and Randomized Trials Network (GARNET) …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… I would also like to draw your attention to two NHGRI events that will be videocast this month. The 87th … the field of genomics. … The American Society of Human Genetics (ASHG) , a professional organization of over 8,000 human …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… information (generally ancestry, some health traits and health risks) from a saliva sample. Ordering and return … insurance to cover the cost of testing. MedlinePlus Genetics gives an overview of DTC-GT for patients. 1 … For more information about GINA, see: GINA Help NHGRI: Genetic Discrimination … Costs of Genetic Testing …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach … Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease GARD: Tay-Sachs …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… as making human insulin, producing fermented beverages and developing pesticide resistance in crop plants. … GMO …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… (ISCC-PEG) provides a venue for individuals to collaborate and develop educational resources. The opinions expressed in … supported by the National Human Genome Research Institute (NHGRI). The resources are vetted by an interprofessional … every three years. International Society of Nurses in Genetics (ISONG) Repository : a collection of educational …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… Office of the Clinical Director (OCD) provides oversight and guidance to NHGRI scientists working to develop better diagnostic … Center. Supporting NHGRI's training programs in Medical Genetics and Genomics and Genetic Counseling. To promote a …
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).
… … Funding Opportunity Announcements ( RFA-HG-20-048 and RFA-HG-20-049 ) Can a genetic counselor consultant … Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … training of genetic counselors. Please refer to the NHGRI Funding for Research Training webpage for training …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … Autosomal dominant polycystic … of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …