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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program2
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on … detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, Healthcare … Newborn screening is a set of …
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. … Cri du … known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a missing …
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
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 … what protections GINA does and does not offer. … The Genetic Information Nondiscrimination Act (GINA) of 2008 …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
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.
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 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 …
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 … identify and better understand pathways involved in human genetic diseases and normal development. Model systems, …
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 …