Search Results
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… The Center for Research on Genomics and Global Health (CRGGH) facilitates a global understanding of the relationship between human genetic variation and population differences in disease … health disparities. Its investigators will develop genetic epidemiology models that will explore the patterns …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted … and to understand their function. One of these tools is genetic mapping. Genetic mapping - also called linkage mapping - can offer … To produce a genetic map, researchers collect blood or tissue samples from …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: … diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. … screening and testing options are available, and, for some genetic conditions, what treatments are available. (See: …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a … newborn screening is mandatory for a defined set of genetic diseases, although the exact set differs from state …
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 …
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.
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 …
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 …