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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- 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
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases … and interpret the non-random distribution of human genetic variation, as well as to understand human history and … in the genomic revolution. Branch investigators use genetic and genomic strategies to elucidate the molecular …
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 …
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… other on a chromosome. … Family Health History, Genealogy, Genetic Disease … An LOD (short for “logarithm of the odds”) …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… leading to a new understanding of cancer and new ways for diagnosing and treating many types of cancer. Cancer is a group of genetic diseases that result from changes in the genome of cells in …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN … … Undiagnosed Diseases Program, rare diseases, genetic disorder … UDN expands the footprint of the network …
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
Breast cancer is the second most common cancer in women after skin cancer.
… However, despite the relatively high prevalence of these genetic mutations in Ashkenazi Jews, only seven percent of … whether an individual in such a high-risk family has a genetic mutation in the BRCA1 or BRCA2 genes. When someone … individuals may develop breast cancer whether or not a genetic mutation is present. … Given the limitations of …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… therapeutic strategies for both rare and common neurologic diseases. Over the past two decades the Sidransky group has … mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into … clinical genetics, Gaucher disease, Parkinson disease, genetic disorder … Ellen Sidransky, clinical genetics, …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana … African countries, where many African Americans derive genetic ancestry . Studying how these genomic variants … National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and co-author of the study. “Overall, we …
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 … from discriminating against patients with genetic diseases by refusing coverage because of 'pre-existing …