3 year PhD student to study nGD

June 2015

Intravenous Gene Therapy for the treatment of nGD

We have previously reported on how our preclinical gene therapy studies are providing invaluable insights into the neuropathic forms of Gaucher disease (nGD) and supporting continued development of novel therapies. On this basis, Giulia Massaro, a PhD student supervised by Dr Ahad Rahim (UCL School of Pharmacy) and Dr Simon Waddington (UCL Institute for Women’s Health) was funded by the Javon Trust, the Gauchers Association and the UCL Impact scheme for a project focusing on investigating the efficacy and safety of minimally invasive intravenously administered gene therapy.

In our study, we use a mouse model of acute Type II nGD that develops the severe neurological symptoms and does not survive beyond 14 days of age.

Giulia’s preliminary findings show that administration of a viral vector carrying the functional GBA gene to a small number of new-born mice through a single intravenous injection can effectively rescue them from premature death. Rather than dying at 14 days, treated mice were still alive two months after the injection with the viral vector. Giulia has closely monitored the animals by weighing them, performing a set of behavioural tests and undertaking pathological analysis of the tissues.

Preliminary data are showing an improvement in the neuropathology. On-going experiments will confirm these promising results and they will hopefully show that gene therapy also has a positive effect in the visceral pathology. This approach would be highly desirable as a single administration of gene therapy could potentially treat both the brain and the visceral disease associated with nGD and provide a systemic treatment in these mice.

Giulia will now treat a larger number of animals and conduct further experiments to validate the data we obtained so far and collect further samples for analysis in collaboration with researchers at Great Ormond Street Hospital and the UCL Institute of Child Health. Excitingly, Giulia’s work on nGD was shortlisted for the prestigious Fairbairn Award (named in memory of Lez Fairbairn, a scientist at the Cancer Research UK Paterson Institute who died suddenly in 2005 aged just 46) at this year’s British Society for Gene and Cell Therapy Annual Conference 2015 in Glasgow, Scotland where she will present her data to the gene therapy scientific community.

December 2014

We are delighted to report success in securing an award through the Impact Studentship Scheme at University College London (UCL). The award will pay for a 3 year PhD studentship working full time on developing neonatal administered gene therapy for nGD.

In previous editions of the Gauchers News we have reported on the work of Simon Waddington and Ahad Rahim who first started looking into Gene therapy in nGD in 2009 when the Gauchers Association awarded them a grant of £9,000 to purchase some viral vectors.

Ahad Rahim recently secured a UCL Excellence Fellowship at UCL and we are delighted to report that in securing this position he was able to position neuropathic Gaucher Disease as a top priority in his work from the very start at the School of Pharmacy. Ahad said "This will allow me to 'set the agenda' within the Department but would also constitute a major long-term commitment to neuropathic Gaucher Disease research at UCL".

The Impact Studentships Scheme being offered at UCL requires a match donation from charities and/or industry to fund PhD positions and we are delighted to report that the Gauchers Association together with the Javon Trust has been able to raise the necessary funds to support this 3 year position. In addition the Association will work with Ahad and Simon to identify further funding to support annual consumable costs i.e. Animal costs.

Ms Giulia Massaro, a highly motivated and committed student from Italy will take up this post in the next few months.

The progress of this work will be reported regularly in future editions of Gauchers News.