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. … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome …
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 … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. … of these side effects, since all people are different. Genetic research is helping us figure out how individual …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… from the University of California, Berkeley; a D.Sc. in genetic epidemiology from the Netherlands Institute for … Lindsey Criswell, genetic risk factors, autoimmune disease, rheumatoid arthritis (RA); …
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 … and cures. This page provides an overview of the Genetic Information Nondiscrimination Act (GINA) and … The Genetic Information Nondiscrimination Act (GINA) of 2008 …
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.
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
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.
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 … how disruptions in signaling pathways and transcription factors contribute to disease. Our investigators use genetics … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… known as having sickle cell trait , increases the risk of blood clots, a risk that is the same among diverse … and blood clots have only included individuals of African genetic ancestry and self-identified Black participants because of the incorrect assumption that the genetic carrier state only affects those who identify as …