Anyone with a Facebook page has probably had their news feed inundated with people performing the ice-bucket challenge over the past several weeks. All your soaked friends are raising awareness and funds for charities working in the area ofamyotrophic lateral sclerosis (ALS, ‘Lou Gehrig’s disease’ or as it is known this side of the Atlantic Motor Neuron Disease (MND)). This is of great importance as treatment for motor neuron disease is still in its infancy, with no viable options at present for drug treatment. Current treatments of motor neuron disease focus more on relieving the symptoms of patients and improving their quality of life. Motor neuron disease is an ‘orphan disease’ of which there are palliative treatments but no real cure. With orphan diseases affecting approximately 300,000 people in Ireland alone, raising awareness and funding for research into the causes of these diseases is very important if new effective treatments are to be found.
At Java Clinical Research we take special interest in orphan diseases and the research and development of orphan drugs to treat these diseases, in line with the continued interest of the pharmaceutical industry as a whole in ‘personalised medicine’. Personalised medicine may use biomarkers identified in fundamental disease research to identify ‘rare’ or ‘subgroups’ of patients with a disease , or measure treatment effectiveness. This new way of diagnosing diseases and the individual treatments for them could be applied to the diagnosis and treatment of more patients with orphan diseases in the future.
Funding of basic research to identify new drug targets for orphan diseases is a major obstacle to progressing R&D programmes. Because of the rarity of these diseases, traditional research programmes in pharmaceutical companies may not be commercially viable. While such companies may collaborate on pre-competitive research programmes, charities remain a major source of research funding in this area. This is why the ALS ‘ice-bucket’ challenge deserves a salute as the message made an effective global impression in a very short timeframe. . Particular credit has to be given to Pete Frates the former Boston College baseball star who at the age of 27 was diagnosed with ALS and initiated and executed this high profile campaign which not only raised awareness to this disease but thanks to the support, enthusiasm and generosity of millions of people around the world much needed funding was raised also.
This message that has swept the world has shed a light on motor neuron disease and brought it to the forefront of news (as evidenced by its proliferation across social media). This energy and awareness needs to be harnessed, and embraced by all parties with a genuine interest in this devastating condition. As motor neuron disease is not a passing “trend” for those who suffer from it. The way forward can only be through collaborative research programmes between patient groups, researcher, health authorities and the pharmaceutical industry both at national and international levels. We wait with much interest to see how this story unfolds in over the months and years ahead.