Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. People with CF carry a defect in CFTR gene causing the body secretions to become sticky and thick, impeding the functionality of the organs affected.
Worldwide, about 70,000 to 100,000 people have CF. A major problem in treating CF is the diversity of the genetic defect. More than 2000 different mutations have been identified in CF patients, and while 12 mutations are represented in 50% of the CF population, more than 1900 mutations are distributed in the other 50%.
HUB has demonstrated with an assay developed by its founders that we can determine the clinical response (or lack of response) of patients directly on an organoid of that patient. In addition, HUB has generated a CF biobank (Hyperlink to HUB catalogue) that consist of more than 400 organoid cultures derived from rectal biopsies of CF patients and representing more than 100 mutations, both common and rare mutations. Using this CF Biobank the effectiveness of (novel) compounds on the CF population or specific mutations can accurately determined in vitro (Forskolin-induced swelling (FIS) assay) (a hyperlink in these words should direct to the definition of the Assay)