
Last week I attended the Cambridge Rare Disease Network (CRDN) 2016 Summit. CRDN is a newly established charity working to build a community of people in Cambridge to address the unmet needs in rare disease research and treatment. As last year, there was a great set of speakers, from patient groups, academia, pharma/biotech and vendors.
There has been a step-change in awareness within the pharma industry in the last decade, with an increasing interest and investment in tackling rare diseases. I blogged last year about an interview with Patrick Vallance on this same topic. He gave several reasons why GSK are interested in rare disease, and these three reasons all were echoed by the CRDN speakers.
The topmost of these reasons was given most clearly by speakers from patient groups, such as Daniel Lewi from the Cure & Action for Tay-Sachs (CATS) Foundation, Karen Harrison from ALD Life, and Emily Kramer-Kolingoff, from Emily’s Entourage. They spoke of the huge impact that rare disease has on individuals and families, and the urgent need for research into new or repurposed treatments for the 1 in 17 people affected by a rare disease.
But another key reason was cogently made by one of the speakers, Professor Patrick Maxwell, Regius Professor of Physic and Head of Clinical Medicine at Cambridge University, who said that studying rare disease “can give us the most extraordinary insights into human biology”. He gave, as an example, the discovery of the role of hypoxia-inducible factors (HIF) in the control of cell hypoxia throughout the body. He described how these factors were found to be targeted by a gene, VHL, which causes the rare Von Hippel-Lindau disease, characterised by the appearance of both non-malignant and malignant tumours in the patient. Insights gained from further study of these complex interactions have led to the development of small-molecule stabilizers of HIF for the treatment of renal anaemia.
You might wonder, why Linguamatics, a company selling a text mining solution, would be interested in a conference on rare diseases. Again and again during the conference speakers talked about the importance of understanding the underlying natural history of these diseases, of having the most comprehensive view of the current knowledge about each disease, the pathways involved, the genes altered, both for de novo drug discovery and also for potential drug repositioning. Text mining can play a part in extracting the key facts from the scientific literature and synthesizing them together for insights, as demonstrated by one of our customers, Shire. Text mining can also be used for systematic research into drug repurposing potentials.
Many of our customers are involved in rare disease research and I hope that the value gained from using text analytics can in some small but significant way accelerate the research towards treatments for these diseases.
Daniel Lewi: “it’s too late for us but we are working for others’ future”
Emily Kramer-Kolingoff: “time is our intense enemy”
