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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establish protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate … sites specifically focused on better understanding disease risk and susceptibility by combining genomic and …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for … purposes only and is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of … and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … from generation to generation due to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not regulated, meaning that they go … being analyzed is related to the presence, absence, or risk of a specific disease. Has having a specific genetic …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… developed a new statistical model that can predict the risk for developing diseases by combining information from … history information to assess which conditions with a genetic component pose a risk to your health and require … because its development depends strongly on a person’s genetic predisposition, combined with their environment and …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the … locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family Health History … A genetic map (also called a linkage map) shows the relative …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing … you on the current needs and challenges associated with genetic counseling while we plan to launch a new effort to … for members of families affected by a genetic condition or risk. Decisions about whether to use genetic tests require …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement. … Genomic medicine has the … hereditary forms of colorectal cancer can assess disease risk and guide screening and preventive measures. Other tests …