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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomic Innovator Awards1
- 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
… distant ancestors lived. … Understand the terms and concepts used in genetic research … Talking Glossary …
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.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through … their health, the U.S. Surgeon General started a national public health campaign called the U.S. Surgeon General's … How do I find a genetic professional? … Can knowing about genetics help treat disease? … How is genetic information …
Policies and Guidance
NHGRI links to external websites to supplement the information found on our website.
… … Our website has links to many other federal agencies, and in a few cases we link to private organizations. You are subject to external site's privacy policy when you leave our site. We proudly comply with 508 … Government, the National Human Genome Research Institute (NHGRI) or the National Institutes of Health (NIH). NHGRI is …
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).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
… Resources … The Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program was started in September 2013 … (NICHD) and the National Human Genomic Research Institute (NHGRI), two components of the National Institutes of …
Staff
Cristina Kapustij was the chief of the Policy and Program Analysis Branch at the National Human Genome Research Institute until June 2024.
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… Cristina Kapustij, M.S., is chief of the Policy and Program Analysis Branch at the National Human Genome … experiences have prepared her to lead the policy branch at NHGRI. Prior to her role at NHGRI, she worked at the Institute for Human Genetics at the University of California, San Francisco. …
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.
… Genetics … Genetics is the branch of biology concerned with the study of … including the interplay of genes, DNA variation and their interactions with environmental factors. … Genetics … including the interplay of genes, DNA variation and their interactions with environmental factors. … Genetics …
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.
… 5. … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is … individuals. The variability of the clinical symptoms and developmental delays may be related to the size of the … widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry …
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.
… led by the University of Oxford, the Broad Institute, and the University of Michigan, reveal the complexity of the … to develop it in their lifetime. Previous studies into the genetics of diabetes risk have identified over 80 areas in … Section at the National Human Genome Research Institute. NHGRI is one of the 27 institutes and centers at the NIH, an …