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- Genomics-Enabled Learning Health Systems (gLHS)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- 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.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … 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 …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school …
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 …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is … on gene therapy for NPC1 also has the potential to treat genetic disorders with some similar features. These might …
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.
… statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome. … Family Health History, Genealogy, Genetic Disease … An LOD (short for “logarithm of the odds”) score is …
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.
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first … 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 and Nigeria. Their study … African countries, where many African Americans derive genetic ancestry . Studying how these genomic variants …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … provider or a clinical trial team. … What is Sickle Cell Disease? National Institutes of Health (NIH) About …
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 … information includes family medical history, manifest disease in family members, and information regarding …