Search Results
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… about key fellowship dates. … Rapid advances in human genetics/genomics research and genomic medicine are … and public engagement. ASHG and NHGRI co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals who wish to transition to careers in …
Professional Development Programs
The Genetics and Public Policy Fellowship is designed for individuals interested in the development and implementation of genetics-related health and research policies at a national level.
… guiding research agendas to informing the integration of genetics and genomics in clinical settings, sound … informed with participation from people with expertise in genetics and genomics. ASHG and NHGRI co-sponsor the Genetics and Public Policy Fellowship to give …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… either enzyme assay or DNA studies. The enzyme assay is a biochemical test that measures the level of Hex-A in a … Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease GARD: Tay-Sachs …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… vertebrae." Laboratory testing for OI may include either biochemical testing or DNA-based sequencing of COL1A1 and COL1A2 . Biochemical testing involves studying collagens taken from a … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline …
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.
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 … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
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 …
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 … from underrepresented groups … Overview … Our Research … Genetics and Molecular Biology Branch … The Genetics and Molecular Biology Branch uses genomic …
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 … outreach activities. … Webinar Series: Complex Trait Genetics Following on the heels of NHGRI’s workshop “Advances …