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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- 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
- Multi-Omics for Health and Disease (Multi-Omics)1
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… The Metabolic Medicine Branch (MMB) houses clinical and laboratory research programs … with genetic disorders. … The research conducted in the Metabolic Medicine Branch involves interconnected laboratory …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… and Global Health (CRGGH) is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI Scientific Director, … Synergies … Related Content … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics …
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… selected Charles P. Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In …
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 social determinants … in the United States and around the world. … Overview … Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… (IEM) are a group of disorders that causes a block in a metabolic pathway leading to clinically significant … they also have the disorder. We recommend talking to your metabolic specialist and/or genetic counselor to determine … based (1) the position of the defective enzyme within the metabolic pathway and (2) whether or not there is any …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… last year of high school, I decided to pursue a career in medicine because I found it challenging and stimulating and … Carlos Ferreira, M.D. , a staff clinician in the Metabolic Medicine Branch at the National Human Genome Research Institute …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… of Philadelphia/University of Pennsylvania School of Medicine. After his fellowship, he joined NHGRI as a member … track investigator in the Genetics and Molecular Biology Branch (2008-current). He is board-certified in pediatrics, … the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic disorders. The clinical research studies are …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting … advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration … the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in Review …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… The Medical Genetics Branch (MGB) seeks to identify and understand inherited … model systems, such as zebrafish and mouse. The Branch fosters outstanding basic research and serves as a … application of basic science discoveries at the bedside. Branch researchers develop and test new diagnostic tests and …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… definitions . … Related Resources … The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting … advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration … please email: GMWG@nih.gov . … Accomplishments in Genomic Medicine … Accomplishments in Genomic Medicine … A list of …