Using gene therapy to produce meaningful improvements in the lungs of Cystic Fibrosis affected individuals. Background Cystic Fibrosis (CF) is a genetic condition affecting more than 10,000 people in the UK. The defective gene in CF leads to a build-up of thick, sticky mucus within internal organs, especially the lungs and digestive system, resulting in chronic infections, inflammation and difficulty digesting food. The average life expectancy of a CF sufferer in the UK is only 41 years and their lives often involve lengthy daily treatments. Some CF affected individuals find daily functioning a struggle due to breathlessness and tiredness. Research The majority of current CF therapies only treat the symptoms of the disease rather than the cause. Dr Collie and Dr McLachlan’s work, as part of the UK Cystic Fibrosis Gene Therapy Consortium (CFGTC), tackles the cause of the disease by introducing a correct copy of the mutated CF gene into the affected individual's genome. Their work, has contributed to the development of this treatment from the initial laboratory studies, via large animal models, to the largest ever human gene therapy trial for CF. They are now working to improve methods of treatment delivery to increase its effectiveness. Impact Work undertaken by Dr Collie and Dr McLachlan made a significant contribution to the first demonstration that gene therapy can produce meaningful improvements in the lungs of CF patients. The techniques and knowledge gained from these studies can potentially be applied to a whole range of diseases. Crucial Collaboration The research partnership between Dr Collie and Dr McLachlan is a brilliant example of how the environment of the LARIF encourages translational research. Dr Collie has a background as a practicing veterinarian and as a researcher in respiratory medicine in livestock at a physiological level. Dr McLachlan came from a genetics background having worked on CF at the MRC Human Genetics Unit prior to coming to The Roslin Institute. By combining their expertise they have enabled the advancement of CF treatment beyond that which either of them could have achieved alone. This has greatly benefitted the research community and CF patients. Public Outreach Raising public awareness of the cutting edge research being conducted at Roslin is something Dr McLachlan is heavily involved in. He frequently gives talks at local schools about his career in science and delivers public lectures on his research. In addition he presents workshops at science festivals, including the Edinburgh International Science Festival, and produces activities for open days at the Roslin Institute. Key Publications: Alton, E. W., Armstrong, D. K., Ashby, D., Bayfield, K. J., Bilton, D., Bloomfield, E. V. et al (2016). A randomised, double-blind, placebo-controlled trial of repeated nebulisation of non-viral cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy in patients with cystic fibrosis. (Efficacy and Mechanism Evaluation; Vol. 3, No. 5). NHS NIHR. DOI: 10.3310/eme03050 Alton, E. W. F. W., Beekman, J. M., Boyd, A., Brand, J., Carlon, M. S., Connolly, M. M., et al (2017). Preparation for a first-in-man lentivirus trial in patients with cystic fibrosis. Thorax, 72(2), 137-147. DOI: 10.1136/thoraxjnl-2016-208406 Alton EW, Baker A, Baker E, Boyd C, Cheng SH, Coles R,....Vrettou Cl (2013) The safety profile of a cationic lipid-mediated cystic fibrosis gene transfer agent following repeated monthly aerosol administration to sheep. Biomaterials. 34 (38) 10267-10277 This article was published on 2024-09-02
