Editorial Board: Molecular and Cellular Probes, 1994-2006
Section Editor: European Journal of Human Genetics, 1997-present
Communicating Editor: Human Mutation, 2000-present
Communicating Editor: Human Genomics and Proteomics, 2008-present
Board of Editor: Clinical Chemistry, 2011-present
Editorial Advisory Board: American Journal of Hematology, 2011-present

Paolo Fortina is Professor of Cancer Biology and Medical Oncology at Thomas Jefferson University in Philadelphia and Director of the NIH-NCI-funded Cancer Genomics Laboratory at the Kimmel Cancer Center. He 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 where he served as Director of Molecular Diagnostics until 2002 when Jefferson recruited him.

Dr. Fortina is a physician with experience in gene mapping and technology development for genetic analysis and cancer research. His major focus of research has been to utilize genomics to transform our understanding of disease and to create novel diagnostic and treatment options. Specifically, his research has involved studies of the regulated expression of human globin genes in normal and diseased states and the field of detection of nucleic acid alterations. In 1997, his laboratory contributed to the development and validation of the OLA-PCR cystic fibrosis diagnostic panel commercialized by Applied Biosystems, and to the identification of the connexin 26 gene responsible for autosomal recessive non-syndromic neurosensory deafness. In the field of microarray-based technologies, he has been involved in developing technologies including a thermal gradient chip with Hitachi-High Technologies, LTD and a 4-color scanner. Past efforts include array-based combinatorial sequencing-by-hybridization in collaboration with Callida Genomics, and simultaneous typing of SNPs within and flanking the minimal deleted regions on chromosomal regions undergoing LOH using customized Affymetrix tag-arrays. Currently, he is involved in custom mRNA expression profiling for the retinoblastoma pathway signature, genetic analysis of X-linked mental retardation, as well as transcriptome analysis of open-angle glaucoma and human platelets in patients with heparin induced-thrombocytopenia. Follow-up of these genomic-based studies, including work on long and short non-coding RNA and whole-exome sequencing, are performed using next-generation sequencing technology.

He has >130 peer-reviewed publications in human genetics and cancer research and has participated in national/international grant review panels. He participates globally in a variety of educational forums in genomics for training of graduate students, fellows, post-doctoral students and visiting faculty. He has served as Scientific Advisory Board member for national and international meetings including IBC's Int’l Conference on Clinical Genomics (San Diego, CA), the 11th Int’l Congress of Human Genetics (Brisbane, NSW, Australia), the Golden Helix Symposia (2009-2012) and the Int’l Forum on Biochip Technology (Beijing, China).  He is member of the Editorial Board of Clinical Chemistry, American Journal of Hematology, Human Mutation, European Journal of Human Genetics, Journal of Cancer Therapeutics and Research, and Journal of Genomics and Proteomics.

Dr. Fortina is committed to cost-effective utilization of state-of-the-art genomics approaches in deciphering the molecular basis of human disease as well as in implementing treatments leading to improved clinical care based on the patients’ genotype profile.

Micro- and nanotechnology, next-generation sequencing, whole transcriptome, long and short non coding RNA, exome sequencing, cancer genetics, applied genomics.

English, Italian (native speaker)