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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- 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
Talking Glossary
Understand the terms and concepts used in genetic research
… Genetic Ancestry … Genetic ancestry refers to information about the people that … individual is biologically descended from, including their genetic relationships. … Genetic ancestry refers to information about the people that …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… Genetic research is creating new ways for people to take … Avoid smoking tobacco and too much alcohol. Get specific genetic testing that can help with diagnosis and treatment. … … of these side effects, since all people are different. Genetic research is helping us figure out how individual …
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 …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic morphea, a severe … of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin … to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. “Researchers …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease … unknown exactly how these genetic changes, known as variants, are distributed among populations and how they lead …
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.
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 …
News Release
The American Society of Human Genetics and NHGRI have teamed up to sponsor the new Genetics and Education Fellowship.
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 …
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.