“The clinical side of things has always been the same – mainstream medicine has never taken much of an interest in rare diseases,” explains Professor Timothy Cox, Director of Research, Honorary Consultant Physician, Emeritus Professor of Medicine, University of Cambridge.

“It takes a doctor who likes to take on challenges posed by patients who are difficult to diagnose and in some way feels the need to pursue their cause.”  Really this is much more an attitude of mind and a way of practice than a matter of huge specialist knowledge.


Government investment in rare diseases encourages ongoing research


However, an enthusiastic doctor alone won’t bring the treatment that desperate families long for – that takes much broader collaboration between academics, clinicians, companies and patient groups. So, to help incentivise the development of drugs for rare diseases, the UK government adopted the European Orphan Drug Act in 2001.

While the act has certainly made a significant difference – Cox doesn’t think it goes far enough to stimulate broader academic research that could help patients of rare diseases while also advancing medical knowledge as a whole. “It does give incentives and has helped introduce many new drugs, but it hasn’t yet supported very much additional research outside of industry,” continues Cox. “Finally the Act lacks teeth, since it cannot ensure that all European countries will pay for drugs that have been approved – in that sense European Law falls short of patients’ and companies’ expectations!”


Parkinson’s disease research benefitted from discoveries in rare diseases


Further research into rare diseases could have much more impact in healthcare in general. A great example is research currently being conducted into Gaucher disease – a very rare condition that causes inflammation in the liver and spleen and bone marrow. 

Researchers recently discovered that mutations in same gene that is involved in Gaucher disease are also strongly implicated in Parkinson’s disease so that novel treatments mighr be shared acroos rare and frequent consequences of genetic variation in a population.

Such knowledge provides the building blocks of information essential to better diagnose and treat not only ultra-rare Gaucher disease but also can be explored in Parkinson’s, which is far more common within the general population.


Rare disease patients offer themselves for clinical trials


Perhaps the unsung heroes in the research world are the patients themselves. Many are living with the pain, trauma and daily struggle of an incurable illness and yet make themselves available for clinical trials and investigations to develop treatments they will never benefit from personally.

“Patient advocacy groups are incredibly important,” concludes Cox. “It was a patient organisation in the US who first gave incentives to companies and investigators to research and discover effective therapies for cystic fibrosis. That’s an extreme example, but sometimes a driven patient will initiate the set up of a small drug trial that proves successful or build a patient registry.” The goals of patients, clinical scientists and doctors are the same – it is the coming together to solve the long and tortured business of drug discovery, development and approval that is so crucial today.

Exciting developments are certainly taking place in the realm of rare and ultra-rare diseases and genuine collaboration based on trust and respect can only help to enhance that.