Arupa Ganguly

Arupa Ganguly, PhD is Professor of Genetics at the University of Pennsylvania Perelman School of Medicine and Director of the Genetic Diagnostic Laboratory. Her clinical expertise encompasses molecular genetic testing for hereditary colon cancer, Li Fraumeni syndrome, Retinoblastoma (RB), uveal melanoma, Hemophilia A, and Hereditary Hemorrhagic Telangiectasia (HHT), with the laboratory serving as a national reference center for RB, HHT, and Hemophilia A testing. The laboratory is ABMG-accredited for clinical molecular genetics fellow training.

Her educational background includes a B.S. in Physics (1974) and M.S. in Physics (1977) from Calcutta University, followed by a Ph.D. in Biophysics (1984) from the University of Calcutta. She completed postdoctoral training at Thomas Jefferson University (1985-1990) and a fellowship in the CHOP-UPENN Genetics Program (1996-1998), achieving FACMG certification in Clinical Molecular Genetics in 1999 with recertification in 2019.

Ganguly's research focuses on the molecular genetics of ocular tumors, particularly retinoblastoma and uveal melanoma. Her retinoblastoma work investigates gene expression profiles of enucleated tumors to predict clinical response, metastasis potential, and retinal cell development origins. For uveal melanoma, her team develops gene signatures for metastasis prediction from fine needle aspirates and studies molecular mechanisms of tumor development, with significant findings linking chromosomal abnormalities (monosomy 3, 8q gain) to metastatic risk. She collaborates with Dr. Charles Stanley on congenital hyperinsulinism research, recently identifying a novel genomic region for autosomal dominant inheritance.

Her extensive publication record demonstrates expertise in cancer genomics, molecular diagnostics, and translational research. Recent work includes developing epigenomic prognostic signatures for uveal melanoma (MethylSig-UM), characterizing Beckwith-Wiedemann syndrome phenotypes, and investigating mosaic variants in lymphatic disorders. Her research bridges basic science discoveries with clinical applications in molecular genetic testing.

Ganguly actively trains clinical molecular genetics fellows through the ABMG-accredited program and collaborates with multiple institutions including Children's Hospital of Philadelphia. Current research initiatives include genomic analysis of uveal melanoma metastasis predictors, molecular basis of retinoblastoma tumorigenesis, and genotype-phenotype correlations in congenital hyperinsulinism and overgrowth syndromes. Her laboratory serves as a national reference center for specialized genetic testing in rare conditions.