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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 … the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic Medicine Branch involves interconnected laboratory …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (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 …
Archive
… Study delivers new insights about effects of metabolic disorder on cognition and learning … Archive …
Archive
… NHGRI researchers help identify new metabolic disorder caused by faulty gene expression … Archive …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … forms of neurofibromatosis. … Overview … List of Genetic Disorders … Featured Content … Genetic Disorders … A list of genetic, orphan and rare diseases under …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… disease. Mitochondrial diseases are a group of disorders caused by problems with the cell’s ability to … not able to provide a "first time" diagnosis or regular metabolic care. … Once you contact our team members, you will … studies such as a DEXA or MRI scan, energy expenditure or metabolic testing, and possibly a skin biopsy (if one has not …
Archive
… 1961: First Screen for Metabolic Defect in Newborns … Archive …
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 … States and around the world. … Overview … Branch Staff … Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch … The Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … in molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments … Ph.D. … Marjan Huizing, rare diseases, genetic disorders, metabolic disorders … Marjan Huizing, rare diseases, genetic …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the biochemical, … tests and treatments for patients with rare genetic disorders in the NIH Clinical Center. To achieve their goals, …