Beekman JM, Wang CM, Casati S, Tuggle KL, Gulmans VAM, Amaral M, De Boeck K
Journal of Cystic Fibrosis 2017 May 3. pii: S1569-1993(17)30105-4, May 2017
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. With an incidence ranging from 1:2500 to 1:6000 across European countries, it is the most frequent life-shortening hereditary rare disease (RD) in Europe. Over the last decades, tremendous progress has been achieved in understanding CF disease mechanisms as well as how CFTR loss-of-function can be restored through pharmacological and genetic interventions . Apart from the mutations in the CFTR gene, non-CFTR genetic modifiers and environmental factors are increasingly being recognized to impact CF disease expression. Nevertheless, how these factors determine individual CFTR residual function and disease expression remains mostly unknown . Remarkable clinical improvements can be achieved upon restoration of CFTR function by CFTR modulators, but considerable heterogeneity in response to CFTR modulators is observed ; ; ;  ; . Similar to the heterogeneity in disease phenotype, the inter-patient difference in efficacy of treatment is likely influenced by many genes, whose protein products mediate complex interactions with CFTR (i.e. modifier genes)  ;  as well environmental factors .
Despite this progress, treatments that can effectively restore CFTR function to levels of healthy controls remain lacking. More effective CFTR modulators and a better understanding of interactions between CFTR, other disease modifiers and CFTR modulating drugs for each individual are needed if we aim to develop effective treatments for all subjects with CF.
Biobanks are a valuable research resource to speed up drug development as well as to develop evidence-based patient care. Different definitions of biobanks exist, but the one used at this preconference meeting was ‘an organized collection of human biological materials and associated information stored for one or more research purposes’ that was adapted from Fransson et al. .
The extent to which biological materials and information are included in biobanks and how these are used vary among distinct biobanks and significantly impact their overall usefulness for advancing research. Biological materials can range from dead-tissue biopsies to frozen collections of living primary cells. Information about these materials can be as limited as a few anonymous identifiers (e.g. CF pulmonary cells) to as detailed as linkage to individual clinical data in a patient registry. Dependent upon the informed consent, materials and data can be used for defined or yet undefined research purposes by academic or both academic and commercial parties.