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Treatment of monogenic disorders

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Basic Techniques and Approaches

  1. Maria Descartes,
  2. Joseph R. Biggio Jr

Published Online: 15 JAN 2005

DOI: 10.1002/047001153X.g106405

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Descartes, M. and Biggio, J. R. 2005. Treatment of monogenic disorders. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:82.

Author Information

  1. University of Alabama at Birmingham, Birmingham, AL, USA

Publication History

  1. Published Online: 15 JAN 2005

Abstract

The ability to cure or treat genetic disease has not paralleled the advances made in molecular genetics to identify and characterize disease genes. Current treatments are mainly focused on symptom improvement or avoidance and include dietary modification, metabolite replacement, enzymatic blockage, enzyme potentiation, enzymatic bypass, and protein replacement.

Keywords:

  • monogenic disorders;
  • enzyme replacement therapy;
  • gene therapy