Findacure’s annual conference, Drug Repurposing for Rare Diseases, is fast approaching and the anticipation is building here at Findacure HQ. In today’s blog Rick takes a brief look at some of the speakers who will be sharing their insights on the day.

Findacure’s conference is always a fantastic day, with a hugely diverse audience, a warm atmosphere, and details of some exceptional projects in rare disease repurposing. We hope this year will be no different – we have certainly managed to compile a diverse programme that touches on the impact that patient groups, big pharma, biotechs, and academics can all have in delivering new therapies to those most in need. Let’s take a closer look at three of our speakers as a small preview of the day.

Tracy Lynch – Co-founder and Chief Executive of Wolfram Syndrome UK

Tracy and her family officially entered the rare disease world after her daughter, Jennifer, was diagnosed with Wolfram syndrome in 2010 at the age of 8. Wolfram syndrome is a rare degenerative genetic condition that affects children from around the age of 5. Patients generally present with difficulties in regulating blood sugar (diabetes mellitus) and visual impairment. Over their teenage years their eyesight tends to degenerate, leaving most children blind, with deafness likely to follow. No one patient has the same journey with the condition though, and Jennifer’s has been markedly different from the “average” route.

In response to the diagnosis and the challenges her family faced, Tracy and her husband set up Wolfram Syndrome UK to provide support to those families living with Wolfram Syndrome. They work to support patients, raise awareness for the condition, and raise funds for research. Their annual conference has proved hugely successful, creating a connection between the patients and researchers around the world. It was at one of these events that the concept of a repurposed treatment for Wolfram Syndrome was first born in the mind of Prof Tim Barrett in response to the need of the Wolfram community. Now they are on the verge of their first clinical trial, with Wolfram Syndrome UK working closely with the researchers to support the project.

Tracy will share her story with us, from the trials of diagnosis, through the formation of the charity, to the verge of a clinical trial. We will hear about their hopes for that trial, and the outlook for Wolfram patients in the future.

Prof Mike Briggs – Professor of Skeletal Genetics at Newcastle University

Mike has a long standing interest in skeletal genetics, and rare skeletal diseases. As part of his research he has been involved in identifying a key mechanism underlying a number of different rare bone growth disorders – ER stress. Mike and his colleagues have worked to identify a treatment that can target ER stress in the bones, and have identified an existing drug that shows results in both cell and animal models. Based on these results Mike has worked to form an international consortium to deliver an academic led clinical trial to treat a specific skeletal condition – Metaphyseal Chondrodysplasia Type Schmid (MCDS). Mike’s talk will cover the process of forming the collaboration, securing EU finding, and getting EMA protocol advice to design and deliver a clinical trial for MCDS.

Dr Feruza Nasirova – Therapeutic Area Medical Head for Rare Diseases and Early Pipeline, Novartis UK

Feruza is representing the big pharma perspective on drug repurposing at our conference. In many cases drugs that are still under licence within a company could benefit a number of conditions, but doing the necessary research can be viewed as either too expensive or too risky. However there are a number of cases where companies have moved a licensed drug into a rare indication, providing significant patient benefit. Feruza will share Norvartis’ journey in developing one such drug for the treatment of the rare disease Tuberous Sclerosis Complex. In this project the company worked closely with patient groups to deliver the treatment. We will hear an industry perspective on this type of collaboration, working in the rare disease field, and thoughts on repositioning as an approach for big pharma.

We have many more talks on the day, including our lightning talk session that features six short talks proposed by our conference delegates. If you’d like to learn more, or to attend the day, check out our Eventbrite page and sign up before the 20th of February.