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My research in a nutshell

Cystic Fibrosis (CF) is a common genetic disease that affects over 8000 people in the UK. It results from an inherited genetic mistake in a gene called CFTR that (amongst other problems) causes the build up of thick sticky mucus in the lungs. Eventually the lungs become repeatedly infected and inflamed, leading to lung failure and premature death. For most people with CF, current therapies are aimed at coping with the symptoms. In 2001, three research groups in the UK, including the CF Gene Therapy Group in CGEM, formed the CF Gene Therapy Consortium (GTC) to develop a new kind of treatment based on introducing working copies of the CFTR gene into the lungs of people with CF. Many advances have been made, and we have learned a great deal about the obstacles to this approach, but we are not yet in a position to offer an effective gene therapy for CF lung disease.

As an integral part of the GTC, the CF Gene Therapy Group aims to bring gene therapy for CF to the clinic. The GTC has two main research fronts. In Wave 1, we have a nonviral product (GL67/pGM169) that is currently being tested in a double-blind, placebo-controlled Phase IIb clinical trial being carried out at the Royal Brompton Hospital in London, and the Western General Hospital here in Edinburgh. The results will be collated in the second half of 2014. In Wave 2, we are developing a genetically modified viral product (F/HN-SIV) that is more efficient at delivering normal copies of CFTR to the lung. This research is in the preclinical stage, and the CF Gene Therapy Group's main role in Wave 2 is studying how the viral DNA interacts with the DNA of its target cells to assess how safe its use in people is likely to be.


I'm a scientist working in the Medical Genetics Section of the Centre for Genomic and Experimental Medicine. My background is in prokaryotic molecular biology, with a particular interest in plasmids. Over the years this has evolved into a career in human gene therapy, a research field that impinges on all aspects of biology. I lead the section's cystic fibrosis gene therapy group, which forms part of the UK CF Gene Therapy Consortium (www.cfgenetherapy.org.uk), a collaboration between Imperial College, and the universities of Edinburgh and Oxford. The Consortium is currently running a major Phase 2b clinical trial of non-viral gene therapy for CF: Scottish patients attend the Western General Hospital arm of the study. I am a member of the Consortium's strategy group.

My primary research interest is in the pre-clinical development of gene therapy, with a focus on vectorology, though more broadly I am interested in many aspects of genomic engineering.


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