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Transforming rare science into treatments

Our third workshop of 2018 took place on Monday 19th November, in collaboration with LifeArc, and introduced patient groups to translational research.

Translational research can sometimes sound like a bit of a buzzword, particularly to those of us outside the research field. This reaction can make us instinctively switch off, and fail to engage with what is actually a crucial topic. Translational research IS the research that rare disease patient groups are all hoping to see in their condition: research that is entirely focused on treatments, focused on taking fantastic laboratory science that tells us how a disease works and transforming it into medication, devices, or processes that can benefit patients. It is for that reason that Findacure came together with LifeArc (a charity focused on delivering translational projects) to deliver a workshop on translational research. Consequently “Transforming rare science into treatments” was the largest workshop held by Findacure since summer 2014. We were delighted to be joined by 54 attendees on the day, with 29 representatives from rare disease patient groups, and a further 17 from charities.


Dr Catriona Crombie - Head of Philanthropic Fund, LifeArc

After a brief introduction from the Findacure team, Catriona Crombie from LifeArc launched the workshop with an introduction to translational research. Catriona provided some very useful insights into the process, and in particular, the role that patient groups can play in driving research to the clinic. One particularly useful concept was that of the “target product profile”. This is essentially a document that defines the requirements of a new product to treat a condition: what do the patients need from a treatment? What will make it clinically successful? What will help to make it a commercial success? Patient groups are in a unique position to really identify the specifications for a new product, and developing a target product profile is a great way to do this.


Dr Chris Kingswood - Trustee and Head of Research, TSA

Catriona’s talk was followed by Dr Chris Kingswood a trustee of the Tuberous Sclerosis Association (TSA). The TSA were heavily involved in the development of Everolimus to treat a number of the symptoms of tuberous sclerosis. As a trustee, parent, and clinician Chris was in a unique position to review the story, and highlight the role played by the TSA. The project really began with basic research funded by the charity. Overtime the increased understanding of the mechanisms of the disease allowed researchers to identify a drug that could treat the condition. The TSA were able to co-fund an initial in-human clinical trial, the positive outcomes of which ultimately got a pharmaceutical company to take the drug to market. The talk was a fantastic example of how a patient group can support research from concept to clinic. Chris was at pains to highlight the crucial role of patient groups in network building within the clinical research community. By building a research community with an interest in a rare condition, the TSA were able to drive research within their field.

Prof. Ranganath - Trustee, AKU Society

After a short break we moved to our second case-study, with Professor Lakshminarayan Ranagnath telling us about the role the AKU Society have played in delivering a clinical trial of nitisinone for alkaptonuria. Much like Chris, Prof Ranganath highlighted the central role that the AKU Society played in building the collaborations that led to the clinical trial. He also took time to stress the impact of the patient organisation in recruiting patients to their study – over 130 patients for a rare condition with a prevalence below 1 in 250,000 of the general population – and how they have helped to ensure patients stay on the trial. Their ability to connect with patients, explain the logic behind the study, and act as an intermediary between the clinical team and patients, providing addition support to patients beyond the trial itself, have all been crucial to their success.


Dr Louise Jones - Head of Translation and Innovation, MRC

After lunch our focus shifted from case studies to some guidance on the practical delivery of translational research. Dr Louise Jones, Head of Translation and Innovation at the MRC (Medical Research Council) first gave a talk about existing routes to fund translational research. One thing of particular interest to smaller organisations is the confidence in concept scheme. This is a dedicated fund to help laboratory scientists deliver the additional experiments needed to show that their research can have a real impact in clinic. It essentially acts as a seed fund to help drive research into the translational space.

Dr Pamela Tranter - Head of Translational Research Group, UCL

Louise was followed by Dr Pamela Tranter, who leads the translational research office at University College London (UCL). Pamela’s role is to help ensure that the excellent basic research within the university can reach the real world – and in the realm of life sciences, this tends to mean generating treatments for patients. Pamela highlighted a number of projects that are being delivered at UCL, and the specialist networks they have established to allow collaboration across departments and therapeutic areas.

If you’d like to learn more about the event, you can check out our photo gallery, and keep an eye on our YouTube channel where videos of the talks will soon be available. Findacure’s workshop series will return in January, when we will be examining the everyday impact of rare diseases.

We would like to a say a huge thank you to everyone who came along to our workshop, and of course to all of our speakers for sharing their expertise and experience with us. We would also like to thank our funders for supporting our Patient Empowerment Workshop Programme 2018: AbbVie, AKU SocietyAmgen, LifeArc and Novartis.


Transforming rare science into treatments

by Mary Rose Roberts time to read: 8 min