Rare diseases – commoner than you think

Rare diseases can be defined as those which affect a relatively small number of people and have specific issues due to their rarity. In Europe a disease is considered rare when it affects 5 people per 10,000. But with many different rare diseases, in Ireland it is estimated that 300,000 people suffer from rare diseases, including cystic fibrosis, haemophilia and phenylketonuria (PKU).

We at Java are delighted at the introduction of the National Rare Disease Plan by the Minister for Health on July 3rd 2014. This plan will address issues of prevention, diagnosis and treatment of rare diseases. With most rare disease due to 350 causes, and 80% of these genetic, co-ordinated diagnosis and treatment can greatly improve patient outcomes.

This plan will lead to the creation of a Clinical Care Programme, improving specialist services and allow for the development of a more cohesive model of care for patients. The National Office for Rare Diseases is another recommendation of this plan and its function will be to identify centres of expertise of various diseases, improve patient access to clinical trials, and improve rare disease research in Ireland.

Java – with expertise in the development and validation of biomarkers for use in clinical trials – has particular interest in the R&D of rare diseases as it coincides with the recent industry trend of personalised medicine, using biomarkers to determine the most appropriate treatment. Rare diseases could be seen as a special case of personalised medicine, with a moleculal biomarker often used to confirm diagnosis. In some cases, genetic subdivision of patient populations allows the targeting of drugs to particular patients, as in the recent treatments for various forms of cystic fibrosis developed by Vertex. This has potential to direct treatments only to patients who will benefit, and serves as a model of the use of personalised medicine in other diseases. In fact, ‘common’ diseases such as cardiovascular disease, are increasingly recognised as having many different (often genetic) causes, which result in overlapping symptoms. Personalised medicine could be viewed as using biomarkers to identify ‘rare’ subgroups of patients with common diseases and choosing the most effective treatment for them. Rare diseases, of interest in their own right, are an interesting model of one potential future for the pharmaceutical and clinical research industries.