Inborn Errors of Metabolism
The Inborn Errors of Metabolism Program encompasses research in the diagnosis, pathophysiology and treatment of genetic metabolic diseases. Specific areas of support include:
- Studies of etiology, pathogenesis, prevention, diagnosis, pathophysiology, and treatment of these diseases
- Characterization of the genes, genetic defects, and regulatory alterations that are the underlying causes of these diseases
- Identification of genetic modifiers that alter the phenotype of these diseases
- Studies of the mutant enzyme and its effect on the structure and function of the protein
- Development of animal models for genetic diseases
- Development of technologies and methods for newborn screening
- Development and testing of dietary, pharmacologic, and enzyme replacement therapies
- Development of stem cell transplantation, both prenatally and postnatally, as a treatment for metabolic diseases.
For further information, contact Dr. Catherine McKeon, Senior Advisor for Genetic Research.
Resources for Researchers
Clinical Research
Centers
- Molecular Therapy and Cystic Fibrosis Centers - Overview & Map
Related Study Sections
See Also
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Office of Rare Diseases
Funding Opportunities
Funding for Special Communities
Conferences
NIDDK Staff
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Dr. Beena Akolkar, Immunopathogenesis and Genetics of Type 1 Diabetes Program Director
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Dr. Terry Bishop, Hematology Research Programs Director
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Dr. Olivier Blondel, Director, Endocrine Systems Biology Program
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Dr. Edward Doo, Director of the Liver Diseases Program
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Dr. Judith Fradkin, Director, Division of Diabetes, Endocrinology, and Metabolic Diseases
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Dr. Catherine McKeon, Senior Advisor for Genetic Research in Diabetes, Endocrinology and Metabolic Diseases
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Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases
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Dr. Jose Serrano, Director of the Liver and Biliary Program; Director of the Pancreas Program
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Dr. Daniel Wright, Hematology Research Programs Director
Related Organizations
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Page last updated: January 20, 2009