Philadelphia University + Thomas Jefferson University

Fortina, Paolo

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Paolo Fortina, MD, PhD

Contact Dr. Fortina

233 South Tenth Street
Suite 1009
Philadelphia, PA 19107

(215) 955-0683
(215) 503-9142 fax

Research & Clinical Interests

My research focus is in genomics to define disease-causing mutations and to create novel diagnostic and treatment options. My work has involved studies of human gene expression in normal and disease states and detection of nucleic acid alterations. Early work focused on the expression of globin genes in normal subjects and patients with various thalassemia syndromes. I contributed also to the identification of the connexin 26 gene as the cause of autosomal recessive neurosensory deafness, and to the development of the OLA-PCR cystic fibrosis diagnostic panel commercialized by Applied Biosystems/Life Technologies (Foster City, CA). Additional efforts were spent in the design, development and testing of microfabricated micro-chambers on silicon glass chips for performing different types of biochemical reactions including PCR, RT-PCR, DOP-PCR and capillary electrophoresis as well as development of integrated microdevices combining front-end sample preparation with the various analytical modules (array chip). Through a number of research-sponsored agreements with biotech companies, I was involved in developing a thermal gradient chip with Hitachi, a 4-color scanner and arrayer, participated in array-based sequencing-by-hybridization of the APC and NF1 genes with Callida Genomics (Sunnyvale, CA), and contributed with Affymetrix (Santa Clara, CA) to developing a protocol for simultaneous typing of SNPs in chromosomal regions associated with pediatric neuroblastoma. My work also has focused on mRNA expression profiling for the retinoblastoma pathway in breast cancer patients. Currently, I am involved in studies of X-linked mental retardation and transcriptome analysis of platelets in patients with heparin induced-thrombocytopenia and in individuals with enhanced platelet aggregation phenotype. Follow-up of these studies, including work on long and short non-coding RNA and whole-genome and exome sequencing (WGS and WES) are performed using next-generation sequencing (NGS) approaches.


Most Recent Peer-Reviewed Publications

  1. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy
  2. Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer
  3. Targeting CDK6 and BCL2 exploits the "MYB addiction" of Phþacute lymphoblastic leukemia
  4. Exosomal αvβ6 integrin is required for monocyte M2 polarization in prostate cancer
  5. Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications
  6. Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
  7. Detection of activating estrogen receptor gene (ESR1) mutations in single circulating tumor cells
  8. Establishment of an orthotopic patient-derived xenograft mouse model using uveal melanoma hepatic metastasis
  9. Transcriptomic profiling of 39 commonly-used neuroblastoma cell lines
  10. Nanostructured luminescently labeled nucleic acids
  11. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
  12. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
  13. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy
  14. Detection and characterization of circulating tumor associated cells in metastatic breast cancer
  15. Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine
  16. Development of an Automated and Sensitive Microfluidic Device for Capturing and Characterizing Circulating Tumor Cells (CTCs) from Clinical Blood Samples
  17. Structure-based screen identifies a potent small molecule inhibitor of Stat5a/b with therapeutic potential for prostate cancer and chronic myeloid leukemia
  18. Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- And tissue-specific microRNAs
  19. The future of laboratory medicine - A 2014 perspective
  20. Clinical exome performance for reporting secondary genetic findings