PTAC/CFTR
APPTT
EPP
Margarida Amaral
BioISI - Biosystems & Integrative Sciences Institute
Univ. de Lisboa, Faculty of Sciences
Sriram Vaidyanathan, PhD
Pediatrics
Nationwide Children's Hospital
The recent success of highly effective modulator therapies (HEMT) has shifted the paradigm of CF basic research from finding ways of rescuing mutant CFTR to identifying the pathways which are disrupted in the CF cell and tissue. One of the key features associated with the substantial increase in life expectancy for individuals with CF is an elevated predisposition to cancer, firmly established by recent studies involving large cohorts. This is a novel challenge emerging at the forefront of this disease.
However, to have a grip on the mechanisms linking dysfunctional CFTR to carcinogenesis we need to shift the focus from CF solely as a channelopathy to other characteristics of an "epithelial disorder". Indeed, key findings from an increasing number of studies show that CFTR plays a role in fundamental cellular processes such as development, epithelial differentiation, polarization, and regeneration.
Another related key question (which also needs to be addressed for gene therapy/gene editing) concerns the ‘right’ cells that express CFTR under normal conditions and whether absence of functional CFTR distorts the right balance of epithelial cell types, namely in the airways.
Speaker: David A. Stoltz, MD, PhD – University of Iowa
Speaker: Camille Ehre, PhD – University of North Carolina
Speaker: Ines Pankonien, PhD – BioISI—Biosystems and Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1749-016 Lisboa, Portugal
Speaker: Eszter K. Vladar, PhD – University of Colorado Anschutz Medical Campus