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Metabolic Diseases 

The staff at the Baylor-Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease at Baylor Research Institute at Dallas works with families affected by inherited defects that severely compromise body chemistry. The Institute conducts several research programs on inherited diseases including those affecting the metabolism of amino acids, organic acids, fatty acids and carbohydrates.

The Institute's molecular research laboratory is currently working to identify molecular defects of fatty acid beta-oxidation disorders and other diseases, as well as the development of new diagnostic and treatment strategies, which include the study of gene therapy and adult stem cells for the use of tissue repair and cell therapy.

One treatment strategy that has been developed involves a new technique called the ultrasound-targeted microbubble destruction that delivers drugs or genes to specific tissues. Collaborating with Paul Grayburn, M.D., director of cardiology research at Baylor Jack and Jane Hamilton Heart and Vascular Hospital, a program has been launched to evaluate this method of gene therapy. This approach may offer relief to patients with a wide variety of disorders such as heart disease, diabetes and Parkinson's disease.

Industry funding has also been acquired to begin work on a gene chip microarray project. This project's focus is on the use of a technique known as multiple mutation analysis, which is carried out on a single gene chip. A single gene chip covering every known mutation of the Medium Chain acyl CoH Dehydrogenase or MCAD gene, as well as other mutations causing fatty acid beta-oxidation disorders, has been created and tested. This unique diagnostic approach might offer a novel and powerful mutation screening approach for both research and clinical practice.

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