Linguamatics are delighted once more to sponsor the Findacure Student Voice Essay Competition. Findacure is a UK charity that is building the rare disease community to drive research and develop treatments.
The winning essay will be published in the Orphanet Journal of Rare Diseases, and the essay topics are:
- The impact of a rare disease is much more widespread than its direct symptoms. Discuss how, with particular reference to the patient experience.
- How can rare diseases lead the way in medical research and clinical innovation?
- How can clinicians and researchers, including students, help to deliver the UK Strategy for Rare Diseases?
One of the big challenges for the development of treatments for rare disease is the need for a thorough understanding of the natural history of each of the 7000 currently known rare diseases. It’s critical to have detailed systematic information on both the genotypic aspect (the genes and mutations), and the phenotypic aspect (pathways involved or disrupted, symptom severities, etc.).
Text mining can provide an excellent tool to gather the key facts needed in a systematic comprehensive way, and Linguamatics customers gain 10-fold or more efficiencies in their search of public domain literature, using I2E. A recent use case from Shire exemplifies the value of text mining over full text documents to extract the nuggets of genotype-phenotype information for a rare disease, in this case Hunter Syndrome.
So, we look forward again to some excellent essays on this year’s topics, spreading the interest and understanding of the impact and value of rare disease research. If you are interested, or know someone who might be, please click here and share.