Prof. Fortina is Professor of Cancer Biology and Medical Oncology at the Sidney Kimmel Medical College and Director of the NCI-funded Cancer Genomics and Bioinformatics Laboratory at the Sidney Kimmel Cancer Center, Thomas Jefferson University. He is currently a member of the Education and Management Division of the International Federation of Clinical Chemistry and Laboratory Medicine. Prof. Fortina is the author/co-author of more than 150 peer-reviewed articles, book chapters and books. He is a member of the Editorial Board of the Am J Hematol, Clin Chem, Hum Mutat, Eur J Hum Genet, J Cancer Therapeutics Res and J Genomics Proteomics. In 2014 he has been elected Fellow of the National Academy of Clinical Biochemistry and appointed as AACC member of the CME Committee in Clinical Laboratory Medicine.
Prof. Fortina’s early work focused on the expression of globin genes in normal subjects and patients with various thalassemia syndromes. He contributed to the identification of the connexin 26 gene as the cause of autosomal recessive neurosensory deafness, the development of the OLA-PCR cystic fibrosis diagnostic panel, and simultaneous typing of SNPs within and flanking minimal deleted regions on chromosomal regions undergoing LOH in neuroblastoma. Current research focuses on using NGS technology to identify genes involved in heritable skin diseases and to profile short and long RNAs in breast and prostate cancer patients as well as development and validation of DNA probe assays, analytical microchips for circulating tumor cells isolation, genetic testing and direct to consumer testing.
Prof. Fortina received his MD and PhD in Pediatrics (Hem/Onc) from the University of Turin, IT. In 1991 he joined the faculty of the Department of Pediatrics at the Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania where he served as Director of Molecular Diagnostics until 2002.