Search Results
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… including the interplay of genes, DNA variation and their interactions with environmental factors. … including the interplay of genes, DNA variation and their interactions with environmental factors. … including the interplay of genes, DNA variation and their interactions with environmental factors. …
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 …