Christine M. Eng, MD
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 laboratory and clinical aspects of genetic testing and clinical research in lysosomal storage diseases.
My main area of interest is the development, implementation, and evaluation of novel molecular approaches to the diagnosis of genetic disorders. As Director of the Baylor DNA Diagnostic Lab, our primary mission is to provide state-of-the-art genetic testing for common and rare conditions in a CLIA-certified laboratory. To this end, we are very active in development of new disease tests and testing strategies, refinement of testing methods for improved sensitivity and specificity, and extension of these activities beyond the usual scope of a molecular diagnostic lab. For example, our laboratory was one of the first to apply array-comparative genomic hybridization (array-CGH) techniques to detect copy number changes in single gene disorders and demonstrated the effectiveness of this approach in genetic testing for Duchenne muscular dystrophy. As an extension of this work, we recently designed and implemented an array-CGH screen for copy number abnormalities in multiple genes known to infer a higher risk of inherited cancers, thereby offering patients a more efficient approach to diagnosis. Another area of active development is in the area of personalized medicine based on determining an individual's genomic profile. We recently developed and validated a highly multiplexed, beadchip assay that is designed to detect single nucleotide changes in disease genes and genetic loci that are causative or predictive of specific single gene disorders, increase the risk of developing certain common multifactorial conditions such as diabetes, or are associated the altered metabolism and response to certain drugs. We will closely monitor and evaluate the experience with this novel approach to personalized medicine. In addition to the development of tests for clinical application, we also have an active interest in determining molecular mechanisms for novel mutations detected through routine testing.
My major clinical research interest is in lysosomal storage diseases, particularly Fabry disease, Gaucher disease, and Mucopolysaccharidosis type 2, with emphasis on both clinical and laboratory approaches to the elucidation of the natural history, molecular genetics, and evaluation of treatments in clinical trials. Fabry disease is due to the deficiency of the lysosomal hydrolase à-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 à-galactosidase A gene in affected males and heterozygous females, study of genotype-phenotype correlations, and development of rapid mutation assays for prenatal diagnosis and identification of carrier females. Currently, my efforts have been directed toward the evaluation in clinical trials of novel treatment approaches for Fabry disease, Gaucher disease, and other lysosomal storage disorders in the form of recombinant enzyme replacement therapy and chaperone therapy.
del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM (2008). Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Human Mutation 29(9): 1100-7. [Pub Med]
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