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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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 Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Training, Diversity and Health Equity Office (TiDHE)
The Diversity Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at Minority Serving Institutions (MSIs), institutions with a documented record and/or historical and current mission of recruiting, educating, training and graduating students from any of the populations identified as underrepresented in biomedical research.
… The Diversity Centers for Genome Research Consortium aims to support the … Lunch and Learn: The Role of the Human Lipidome in Complex Disease March 22, 2024  Chan Zuckerberg Biohub Metagenomics …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… Institutes of Health has awarded grants to six medical centers around the country to select from the most … program at the NIH Clinical Center in Bethesda, Md., that for the past six years has evaluated hundreds of patients and … are previously undescribed, or are rare forms of more common diseases. The NIH Common Fund awarded four-year grants …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… obvious cause - affects 1-2% of all children, accounting for about 40% of all hypertension diagnoses in children, and … Although a role for genetics in the development of the disease has been supported, it is unclear whether this …  Sickle cell disease (SCD) is one of the most common monogenetic diseases in the world, with high mortality …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… elements of informed consent that are required by the Common Rule (45 CFR 46, Subpart A) and that are relevant to … This Research Study Being Done? [Examples:] We are asking for your permission to collect samples and health information … how genes play a role in diseases such as cancer, heart disease, diabetes and glaucoma. [If applicable] The specific …
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 … affected subpopulations. The branch houses the Center for Research on Genomics and Global Health, which advances … models that explore the patterns and determinants of common, complex diseases in populations in the United States …
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… (NISC) , established in 1997, is a multi-disciplinary genomics facility that emphasizes the generation and analysis … to explore the use and implementation of leading edge genomics technologies, molecular biology protocols and … to determine which method(s) would work best. The most common types of sequencing projects include whole exome …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… give this lecture in the Sisters Chapel, a historic site for many reasons including being the place where the late Dr. … into how mosaicism at these sequences contributes to disease and inform the development of new genetic testing … enabling powerful genomics studies across institutes and centers.  “For more than 25 years, NISC has played an …
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… Ph.D., is a Program Director with overall responsibility for the NHGRI Genome Sequencing Program (GSP), and specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… methods as applied to mapping quantitative trait loci for obesity in model organisms. He contributed code to the R … influence the risk of developing Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. Curriculum Vitae … …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … 25 million to 30 million Americans. … The exact cause for many rare diseases remains unknown. Still, for a significant portion, the problem can be traced to …