Search Results
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … needed for the development of new tests, therapies, and cures. This page provides an overview of the Genetic Information Nondiscrimination Act (GINA) and describes what protections GINA does and does not offer. …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease … led by the University of Oxford, the Broad Institute, and the University of Michigan, reveal the complexity of the …
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.
… Rapid advances in human genetics/genomics research and genomic medicine are increasingly relevant to everyday … have been paralleled by innovations in science education and public engagement. ASHG and NHGRI co-sponsor the Genetics Education and Engagement … with an advanced degree who are interested in developing and implementing genetics/genomics education, community …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
… the implications of genomics for their health care and evaluate the relevant public policy issues,according to … citizenry, the American Society of HumanGenetics (ASHG) and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship. Every year, one genetics …
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.
… Advances in research and their successful translation to improve health are deeply … research agendas to informing the integration of genetics and genomics in clinical settings, sound evidence-based public policies can inform, enhance and accelerate equitable access to the benefits of genomics …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus on human … vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, molecular, and cell biological levels involve the direct study of human …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of … "CPS1 deficiency". A list of broad categories of IEM and some examples are listed below. IEM Examples Urea cycle … but they may also occur spontaneously. When discussing how genetic conditions are passed on in a family, it is important …
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. … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually …
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.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and …