Rare Disease Day

Rare Disease Day 2016 - Findacure Scientific Conference

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.

One thought-provoking talk challenged the current innovation model within pharmaceutical development, that of “intelligent design”; i.e. molecular component x misbehaves in a way that cause phenotypic disease trait y; x can be drugged with d; d causes improvement in y without an unacceptable decline in other traits – and hence d can go forwards into trials as a potential therapeutic. There have been huge increases in the research and data underlying target ID and validation, screening, lead optimization, etc. with the advances in HTP biology and chemistry; but the number of new molecules approved is not increasing in parallel. This suggests that “intelligent design” is just a story – and what we need is much more focus and value on field-based discovery i.e. real world evidence.

Of course, at the heart of these discussions was the focus on the patient, and we had some excellent talks around specific case studies, and the benefits of some of the newer treatments to the lives of children and adults affected by rare diseases.

If you’d like to know more about the day, you can visit Findacure’s facebook page on the conference, or see some of the talks on their YouTube page.  I gave one of the 5-minute lightening talks on text analytics for genotype-phenotype associations in Hunter Syndrome – happy to hear your comments!



Text analytics for genotype-phenotype association in Hunter Syndrome. Linguamatics text mining solution, I2E, has been used by researchers at Shire Pharmaceuticals to develop insights into the association of genetic variation with severity phenotypes, in Hunter Syndrome patients. This rare disease, also known as Mucopolysaccharidosis II, is caused by an X-linked deficiency in iduronate-2-sulfatase. Deriving systematic annotation from scientific literature around patient genotypes for disease-specific mutations, and correlating these to efficacy scores or immunogenicity responses offers tremendous insight into patient genotype-outcome relationships, and hence the treatment and well-being of rare disease patients.