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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 …
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 … Synergies … Related Content … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics …
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 … with genetic disorders. … The research conducted in the Metabolic Medicine Branch involves interconnected laboratory … gene addition therapy and gene editing approaches to treat metabolic disorders, study immune manifestations caused by …
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 … in the United States and around the world. … Overview … Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch … The Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… Health Research (CPHR) (formerly the Medical Genomics and Metabolic Genetics Branch) was established in 2021 as a … in which investigators use genetic variation to identify pathways that can be targets for common diseases, such as … Health Research, formerly the Medical Genomics and Metabolic Genetics Branch, studies how health and disease are …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… Charles Venditti’s Organic Acid Research Section in the Metabolic Medicine Branch at NHGRI. … Dr. Galarreta’s … pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch. … Dr. Galarreta is a … pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch. … Staff …
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 … … About Trimethylaminuria … Trimethylaminuria is a metabolic condition in which an individual is not able to … Treating A Genetic Disease … Trimethylaminuria is a metabolic condition in which an individual is not able to …