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 …
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.
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration … prevent, detect and better treat disease. In some cases, research participants may also gain some individual benefit, … In addition to taking steps to protect the privacy of your genetic information, there is a Federal law called the …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new health-related … appropriate for the scientists to look for and share such research findings. … among researchers, ethicists, policymakers, and research participants about the return of individual research …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
… The National Human Genome Research Institute hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for … Webinar for Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… When the researchers compared gene activity due to the genetic contributions from either parent, they found that … , provide new insights into the effects and roles of genetic variation and parental influence on gene activity in … cause of complex traits and disease in both species. The research was supported by the Centers for Excellence in …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… and it is one of the few programs that emphasizes clinical research. Trainees also gain broad newborn screening … Newborn Screening Laboratory, one month of clinical research at NIH  and three and a half months of clinical … the fellowship acquiring skills in the care and clinical research of patients with metabolic disorders. The residency …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… participants in biomedical, clinical and social-behavioral research can provide insights and discoveries that could not … model organisms or other methods. All federally-funded research with human participants such as that supported by … clarify the benefits and risks of participating in the research. …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… of Health researchers has turned traditional genomics research on its head. Instead of trying to find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy … presumed, mutations that would almost certainly lead to a genetic condition. …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… Many Americans 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 …