Digestive Cancer Project (DC): Investigating novel molecular/genetic biomarkers associated with digestive cancers. Develop test biomarkers from novel digestive cancer molecular mechanisms and investigate these biomarkers for diagnostics, prognostics and therapeutic efficacy.
Non-Small Cell Lung Cancer Project (NSCLC): Investigation of novel pipeline to isolate and characterize Circulating Tumor Cells (CTCs) from patients with different stages of NSCLC and controls using RareCyte technology. Defining the CTC’s mutations’ functional role in the development of NSCLC and their potential as risk, diagnostic, prognostic or outcome monitoring biomarkers or as a companion genetic test to a given treatment.
Circulating tumor DNA (ctDNA): Implementation of a tool for genetic profile testing of plasma-derived cfDNA as biomarkers of prognostic and monitoring response to treatment in patients with different stages of BC. Testing the potential of ctDNA as early diagnostic biomarkers by determining the somatic mutations corresponding to the real time tumor in the cfDNA, to avoid potential confounding of cfDNA released by the biopsied cells into the bloodstream.
Functional analysis of candidate genes in primary T cell immunodeficiencies: Identify disease-causing mutations by lossof-function analysis using antisense morpholino oligonucleotides to knockdown expression of the candidate gene in transgenic zebrafish; then test the mutation function by re-expressing the mutant vs. wild type human ortholog to determine which can compensate for the loss of the endogenous zebrafish gene. Given the knockdown results in zebrafish and mouse models of the patient mutations will be generated to study the mechanisms of impaired T cell development and to understand the mechanism whereby the mutation impairs T cell development.