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National Human Genome Research Institute Resources (NHGRI) Resources
The National Human Genome Research Institute began as the National Center for Human Genome Research (NHGRI), which was established in 1989 to carry out the role of the National Institutes of Health (NIH) in the International Human Genome Project (HGP). With the human genome sequence complete since April 2003, scientists around the world have access to a database that greatly facilitates and accelerates the pace of biomedical research. The history of the HGP, the history of genomics, and the history of NHGRI are inextricably intertwined.
NHGRI Topic Specific Resources and Tools
This area of www.genome.gov provides educational materials about genetics and genomics.
- Health Information
This area of the www.genome.gov website provides health information about genetics and genomics, rare diseases, patient care, and more.
- Talking Glossary
The Talking Glossary was created to help everyone understand the terms and concepts used in genetic research. Specialists in the field of genetics share their descriptions of terms, and many explanations include images and animation.
- Genetics and Genomics for Health Professionals
Provides reliable, up-to-date genetics and genomics information related to patient management, curricular resources, new NIH and NHGRI research activities, and ethical, legal and social issues.
- Quick Links for Patient Care
A quick resource for genetic terms, patient care, specific diseases, more.
- Genetics 101 for Health Professionals
The resources in this section provide basic information about genetics and genomics in clear language.
- Genetic Discrimination
Overview of the Genetic Information Nondiscrimination Act (GINA) of 2008, The Affordable Care Act of 2010 and other legal protections against genetic discrimination by employers, issuers of health insurance, and others
National Coalition for Health Professional Education in Genetics (NCHPEG) Resources
The National Coalition for Health Professional Education in Genetics (NCHPEG) was established in 1006 as an "organization of organizations" committed to a national effort to promote health professional education and access to information about advances in human genetics. NCHPEG's website, since 2013, has continued under the leadership of The Jackson Laboratory of Bar Harbor, Maine, which is a nonprofit genetics research institution with a deep commitment to genetics and genomics education.
National Center for Biotechnology Information (NCBI) Resources
National Center for Biotechnology Information advances science and health by providing access to biomedical and genomic information. NCBI is the parent website for PubMed.
NCBI Topic Specific Resources and Tools
- Genes and Disease - collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter. With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites.
- GeneReviews – expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. This site also includes the GeneReviews Illustrated Glossary;
- GTR: Genetic Testing Registry - medical genetics information resource where you can find all types of GTR records, including tests, conditions/phenotypes, genes, and labs. A link to GeneReviews is available.
- Online Mendelian Inheritance in Man (OMIM) - comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and more than 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain numerous links to other genetics resources.
- Gene - integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
GeneTests is a medical genetics information resource developed for physicians, other health care providers, and researchers. The site was started in 1992 and is currently managed by BioReference Laboratories. Specific search tools are available by disorder, gene and test. Links to GeneReviews and OMIM are available.
Health and Human Services Family History Initiative
A national public health campaign, called the Surgeon General's Family
History Initiative, to encourage all American families to learn more about their family health history.
Genetics/Genomics Competency Center for Education
The mission of G2C2 is to provide high quality educational resources for group instruction or self-directed learning in genetics/genomics by health care educators and practitioners. The G2C2 solicits, reviews and organizes resources through an interdisciplinary collaborative exchange.
National Society of Genetics Counselors
Promotes the professional interests of genetic counselors and provides a network for professional communication. Local and national continuing education opportunities and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of membership in NSGC.
American Society of Human Genetics
The American Society of Human Genetics (ASHG), is the primary professional membership organization for human genetics specialists worldwide.