Thuluvancheri K. Mohandas, Ph.D

Professor of Pathology and of Genetics

Human Molecular Cytogenetics

The laboratory is involved in diagnostic work detecting abnormalities of human chromosomes in disease states as well as research in human cytogenetics and human molecular cytogenetics. Chromosome abnormalities are responsible for a significant proportion of genetic diseases, occurring in about 1 of 150 live births. They are a leading cause of mental retardation and pregnancy loss. Also, there are clonal chromosome abnormalities that are strongly associated with specific tumor types, which play important roles in tumor initiation and progression. These chromosome abnormalities aid in the diagnosis, prognosis and management of the neoplastic diseases. Recent advances in human genomic research has generated suitable molecular probes for all regions of human chromosomes, which allow more precise characterization of chromosome abnormalities by fluorescence in situ hybridization (FISH) and other molecular genetic methods.

Novel chromosome rearrangements are continually being discovered in the diagnostic laboratory and our research efforts are aimed at characterizing these more precisely at the molecular level for genotype-phenotype correlation and to understand the mechanisms of origin of these rearrangements.