Paolo Fortina received his MD/PhD in Pediatrics from the University of Turin School of Medicine in Italy and in 1991 joined the Department of Pediatrics at the Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine.
His research focus is in genomics to create novel diagnostic and treatment options. His research has involved studies of the expression of human genes in normal and diseased states and the detection of nucleic acid alterations. In 1997, he contributed to the development and validation of the OLA-PCR cystic fibrosis diagnostic panel commercialized by Applied Biosystems, and to the identification of the autosomal recessive neurosensory deafness connexin 26 gene. In the field of microarray-based technologies, he has been involved in developing technologies including a thermal gradient chip with Hitachi, and a 4-color scanner. Other efforts include array-based sequencing-by-hybridization with Callida Genomics, and simultaneous typing of SNPs on chromosomal regions undergoing LOH using customized Affymetrix tag-arrays.
Currently he is Professor of Cancer Biology and Medical Oncology at Thomas Jefferson University in Philadelphia. He leads the NIH-NCI-funded Cancer Genomics Laboratory at the Kimmel Cancer Center where he works on mRNA expression profiling for the retinoblastoma pathway, X-linked mental retardation, and transcriptome analysis of platelets in patients with heparin induced-thrombocytopenia. Follow-up of these studies, including work on long and short non-coding RNA and whole-exome sequencing, are performed using next-generation sequencing technology.
He has contributed to more than 130 peer-reviewed publications in journals, has participated in grant review panels nationally (NIH and NSF) and internationally and is member of the Editorial Boards of the American Journal of Hematology, Clinical Chemistry, Human Mutation, European Journal of Human Genetics, Journal of Cancer Therapeutics and Research and Journal of Genomics and Proteomics.