By Leonie Schittenhelm
The amount of common diseases we have yet to cure can seem overwhelming sometimes: no week without a looming ‘Alzheimer’s epidemic’ headline or an advert on the bus warning about the 1 in 3 chances of having a stroke. Surely all energy and research funds should be channeled into treating and healing these wide-spread diseases? Yes and no. While learning more about these diseases is incredibly important to help the people affected by them, researching less common diseases should not be forgotten.
A disease is considered rare if less than 5 people in 10,000 are affected by it. While relatively few other people will share the same disease, the amount of rare diseases ranges between 6,000 and 8,000. This means that over 30 million people in the European Union alone are estimated to suffer from these rare conditions, often without relevant therapeutic options and frequently misdiagnosed for years. To make matters worse, significant research results are difficult to obtain due to inherently small sample sizes and experts in a specific rare disease being equally scarce.
However, with the advances of genetic diagnostics, diagnosing rare diseases correctly and research to find better treatments is finally in reach. And while the problem of small local sample sizes persists, the European Union has pledged to fund collaborative projects tackling this problem as part of the Horizon 2020 programme. One such example is the RD-Connect network that is being built by Professor Hanns Lochmüller and his team at Newcastle University. The online platform collects a range of clinical and genomic data on rare diseases, while encouraging the researchers to use their resources to upload their own, building a huge database on rare diseases.
Understanding these diseases better does not only help the people affected by them, it can also increase our understanding of biochemical pathways in the general population. Because the majority of rare diseases are caused by a single gene mutation, symptoms can be usually traced back to the malfunction of a specific gene. This means that elucidating why a set of symptoms occurs can not only provide therapeutic options for patients, but also reveal the function of a specific gene in the healthy population.