I spent an informative and enjoyable day at the Findacure Scientific Conference last week, on Rare Disease Day, 29th February 2016. One of the aims of the charity Findacure is to find new cures for rare diseases by repurposing of existing medicines, and Dr Rick Thompson gave an excellent introduction to the problem, with an example of cost of illness modelling for Congenital Hyperinsulinism (CHI). This brought up some of the key challenges for disease modelling and understanding of rare diseases that were repeated again and again across the day:
- Limited background information e.g. epidemiology and clinical burden of the disease
- Paucity of knowledge of natural history of disease, and understanding of the disease heterogeneity
- Little or no data on economic burden of the disease
The talks were varied, ranging from the cost effectiveness of potential drug repurposing programmes, the promise of big data and the ‘omics revolution in identifying suitable candidates for rare diseases, to how collaborations between academia, patient bodies, the pharma industry and rare disease charities are progressing discoveries and developments in certain areas.