Paolo M. Fortina, MD, PhD

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.

• SKMC Profile
• Dr. Fortina's Research Lab Site