Today, the EU has announced 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions - including AFM-Telethon - that will allow scientists to share data from their genomics research projects. A rare disease is defined by the EU as one that affects fewer than five people in every 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases, and approximately 30 million people across Europe are affected by a rare disease.
The revolution in DNA sequencing, which means an entire human genome can now be sequenced within days and for less than 10,000 Euro, has brought the hope of personalized treatments for many of these diseases a step closer. The International Rare Diseases Research Consortium (IRDiRC), under which these new grants have been awarded, aims to accelerate research into rare diseases:
- Identifying the genetic and epigenetic causes of rare kidney disorders – led by Heidelberg University Medical Centre, Germany ;
- Addressing rare neurodegenerative and neuromuscular disorders using next generation whole-exome sequencing – led by the University of Tübingen, Germany
- Developing a global infrastructure to share the research of rare disease projects – led by Newcastle University, UK
- Supporting international rare disease collaboration through IRDiRC – led by INSERM, France
Professor Paul Lasko of McGill University in Montréal, Canada, Chair-Elect of the IRDiRC Executive Committee, explained: “IRDiRC’s goal is to reach 200 new rare disease therapies, and diagnoses for all rare diseases, by the year 2020”.
Professor Lochmüller added : “Already we have drugs being tested in clinical trials which can, in effect, patch up the faults in the genes for some rare diseases such as Duchenne muscular dystrophy. Drugs like this are at the vanguard of a new generation of therapies that change a person’s genes rather than just treating their symptoms, and they have the potential to make a real difference to the quality of life of people with the condition. By sharing data and clinical expertise in this structured way across an international network, we hope to discover similar life-changing drugs for other rare diseases.”