B.A., Yale College, Yale University, 1978
M.D., Tulane University School of Medicine, 1983

RESEARCH INTERESTS:
My research interests are directed towards translational medicine, specifically the application of molecular genetics to the diagnosis and treatment of genetic diseases. Recently, my efforts have been focused on lysosomal storage diseases and laboratory and clinical aspects of genetic testing.

My major research interest is in lysosomal storage diseases, particularly Fabry disease, with emphasis on both clinical and laboratory approaches to the elucidation of the natural history, molecular genetics, and evaluation of potential treatments in clinical trials. Fabry disease is due to the deficiency of the lysosomal hydrolase a-galactosidase A, which leads to the progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3) mainly in the vascular endothelium. Previous accomplishments in my laboratory include the further characterization of the natural history of the classical and cardiac variant forms of the disease, identification of over 100 mutations in the a-galactosidase A gene in affected males and heterozygous females, study of genotype-phenotype correlations, and development of rapid mutation and linkage based assays for prenatal diagnosis and identification of carrier females. Currently, my efforts have been directed toward the evaluation of a novel treatment for Fabry disease in the form of recombinant enzyme replacement therapy. In both Phase 1 and 2, as well as in a multicenter placebo-controlled Phase 3 study, the safety and efficacy of recombinant a-galactosidase A in the treatment of Fabry disease was evaluated and found to be effective in the clearance of glycosphingolipid stores in the vascular endothelium of target organs. Current and future efforts will be focused on continued evaluation of this therapy in patients at different clinical stages of the disease. It is anticipated that the early success of enzyme replacement therapy for Fabry disease will serve as a model for the development and evaluation of therapy for a range of other lysosomal storage disorders.

A second area of interest is the development and evaluation of genetic screening programs for prenatal and presymptomatic genetic testing. Our aim in conducting these studies is to optimize genetic counseling for these conditions through an understanding of gene frequency and penetrance and to gain an appreciation of the risks of genetic testing with the goal of devising strategies to minimize these risks. For example, using the Ashkenazi Jewish population as a model, we are endeavoring to understand the role of recurrent mutations in the BRCA1 and BRCA2 genes in the development of breast cancer and the psychosocial sequelae of being identified as a carrier or a non-carrier. Specifically, we are studying the penetrance of these mutations in breast cancer families, correlating genotype information with epidemiological and medical history, optimizing education and genetic counseling, and determining the psychological implications of testing on medical management, disease surveillance, and future acceptance of genetic testing.

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SELECTED PUBLICATIONS:
1. Eng CM, Guffon N, Wilcox W, Germain D, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ (2001). A multicenter, randomized, double-blind, placebo-controlled study of the safety and efficacy of recombinant human a-galactosidase A replacement therapy in Fabry disease. N. Engl. J. Med. 345: 9-16.

2. Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ (2001). Galactose Infusion Therapy Improves Cardiac Function in the Cardiac Variant of Fabry Disease. Two Year Experience of "Chaperone-Mediated" Enzyme Enhancement. N. Engl. J. Med. 345: 25-32.

3. Eng CM, Banikazemi M, Gordon R, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Brodie S, Mehta D, Desnick RJ (2001). A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Safety, pharmacokinetics, and substrate clearance studies. Am. J. Hum. Genet. 68: 711-722.

4. Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM (1999). Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). Am. J. Med. Genet. 84: 420-424.

5. Fodor FH, Weston A, Bleiweiss IJ, McCurdy LD, Walsh MM, Tarrter PI, Brower ST, Eng CM (1998). Frequency and penetrance of common BRCA1 and BRCA2 mutations in low to moderate risk Ashkenazi Jewish breast cancer patients. Am. J. Hum. Genet. 63: 45-51.

6. Caggana M, Ashley G, Desnick RJ, Eng CM (1997). Fabry disease: Molecular carrier detection and prenatal diagnosis by analysis of closely-linked polymorphisms at Xq22.1. Am. J. Med. Genet. 71: 329-335.

7. Eng CM, Schechter C, Robinowitz J, Fulop G, Burgert T, Levy B, Zinberg R, Desnick RJ (1997). Prenatal Genetic Carrier Screening: Experience with Triple Disease Screening in the Ashkenazi Jewish Population. JAMA 278: 1268-1272.

8. Eng CM, Kozak CA, Beaudet AL, Zoghbi HY (1991). Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics 9: 278-282.

For more publications, see listing on Pub Med.

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CONTACT INFORMATION:
Christine M. Eng, M.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, Texas 77030

Telephone: 713-798-8997
Fax: 713-798-6584
E-mail:

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Last modified: 2002