HipSci has generated iPS cell lines from donors diagnosed with Bardet-biedl syndrome. University College London contributed the tissue samples to the HipSci project.
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is an inherited genetic disorder, for which mutations in many different genes can be responsible. HipSci’s BBS cell lines come from individuals in which the disease-causing mutation is not in the same gene across the cohort of individuals.
This cohort is one of many genetic disease cohorts in the HipSci project. IPSC technology provides opportunity for modelling human genetic diseases in the culture dish, for developing therapeutic agents and for screening of potential drugs. Cell lines reprogrammed from the somatic cells of disease-carrying tissue donors can be differentiated into the disease-relevant tissues, which are not otherwise easily obtained from patients.