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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history … not able to provide a "first time" diagnosis or regular metabolic care. … Once you contact our team members, you will be asked to provide medical records to determine eligibility. Our team will …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome Research … in Missouri in 2003; completed internal medicine and pediatrics residency and a sub specialization in both …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… Trimethylaminuria is a metabolic condition in which an individual is not able to … for centuries, but has only gained scientific recognition and support in the past 30 years. … Trimethylamine is the … Therefore, it is recommended that you work with a medical or genetics professional to contact the laboratories …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… of the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research … of parkinsonism. In collaboration with the NIH Chemical Genomics Center, hundred-thousands of small molecules were …
Administrative
The Management Analysis and Workforce Development Branch provides advisory services, develops policies and procedures, and coordinates implementation at NHGRI.
… The Management Analysis and Workforce Development Branch (MAWDB) provides management advisory services, develops management and administrative policies and procedures, and coordinates …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… As the heat rises and the summer arrives, you might be looking for some indoor … virtual NHGRI workshop entitled “Future Directions in Genomics and Health Equity.” The goal of the workshop was to … Us Research Program is to accelerate health research and medical breakthroughs, enabling individualized prevention, …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… been fully appreciated in their lifetimes, such as Darwin and Mendel. As the student puts the events in order, he or … activity may be most effectively done at the end of a genetics unit as a review or reinforcement lesson. It likely … that led to our understanding of the human genome. … Genomics 101, Genomics Lesson Plan, Timeline Of Genetics, …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… - is moving from research laboratories into general medical practice. Now, two leading scientists have sketched … M.D., of the National Human Genome Research Institute and Robert C. Green, M.D., M.P.H., of Brigham and Women's … of Medicine (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… DNA for variations, typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a genetic test can be used to …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… M.D. … Dr. Robb Rowley is an Internal Medicine Physician and is the Program Director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network. The national Network combines DNA …