Inborn Errors of Metabolism : NIDDK

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


Related Study Sections

Funding Opportunities

Funding for Special Communities


Related Organizations

See Also

Page last updated: January 20, 2009

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