Molecular Biology is a fundamental area of investigative research in Biology that employs new technologies and experimental approaches to examine fundamental processes in all living organisms. In the course of these investigations, we use wide variety of model organisms, including mice, guinea pigs, human tissue cell cultures, the nematode species Caenorhabditis elegans, the plant Arabidopsis thaliana, model bacteria and the fruit fly Drosophila melanogaster. The research is of immediate relevance to human health in many areas including cancer, inherited genetic diseases and disease resistance, DNA repair, and neurosystem development and function. We welcome strong applicants as undergraduate researchers, graduate students and postdoctoral fellows.
Molecular Genetics ofTay-Sachs disease and Sialidosis. My research focuses on the molecular genetics of two diseases, Tay-Sachs and sialidosis, which are lysosomal storage disorders caused by defects in ?-hexosaminidase A and sialidase respectively. The lysosomal storage process begins in the fetus early in pregnancy but most of these diseases become clinically evident within the first 2 years or have a later onset. The majority of patients show a fatal course with progressive involvement of the nervous system. We have focused on identifying disease-causing mutations in order to determine the impact of these mutations on disease phenotype. This provides informative genotype/phenotype correlations and a precise understanding of the structure/function of the enzymes. With the discovery of more mutant alleles, we have utilized this DNA-based technology to complement the enzyme-based prenatal diagnostic procedures. We are also developing mouse models of Tay-Sachs disease and sialidosis which will allow us to study the pathophysiology of the diseases in order to test potential therapeutic strategies in vivo. Finally, we are developing recombinant adenovirus vectors coding for the human sialidase gene for therapeutic applications. Adenoviral vectors represent a new class of biotherapeutics and its development for gene therapy holds much hope for patients.
Genetics & Molecular Biology
