Molecular Biosciences

Research Summary: 

My overall interests are in the molecular diagnostics of genetic disease and cancer. More specifically, I am interested in genetic mutation analysis for diagnostic purposes and genotype-phenotype correlation purposes. My laboratory is involved in technology development that is geared towards the molecular diagnosis of human genetic disease, particularly orphan genetic disease and cancer. Our goal is to implement such technology in the clinical setting. Both orphan diseases and cancers are characterized by a wide spectrum of genetic mutations, making it important to have sensitive and efficient methodologies for gene scanning. To this end, we are analyzing and comparing different mutation detection techniques such as automated DNA sequencing and denaturing high performance liquid chromatography (DHPLC) in a number of different genes, including the BRCA1 and BRCA2 breast cancer predisposing genes, the X-linked myotubular myopathy gene and the lissencephaly genes.
In addition to mutation analysis, I am also interested in gene methylation analysis and its implication in diagnostics. We have developed PCR-based methylation assays for the genetic disorders Prader Willi syndrome, Angelman syndrome and Fragile X syndrome which we have implemented for molecular diagnostic purposes in our clinical laboratory. Methylation is an alternative mechanism for gene inactivation and has been documented in several genes in a wide range of cancers. I am currently pursuing methylation studies of selected cancer-related genes in endometrial and breast cancer, with the aim of obtaining a better understanding of the pathogenesis of these diseases and for the establishment of genetic markers for diagnostic and prognostic purposes.