Eliminating Rare Diseases
January 26, 2013
A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.
Rare diseases– while individually uncommon– affect one person in every 17. Eighty percent of rare diseases have a genetic component, and they include genetic kidney diseases like nephrotic syndrome and conditions like Huntington’s disease, ataxia and muscular dystrophy.
Today, the European Union has announced over $51 million dollars (€38 million Euro) funding for research towards new treatments and for the development of a central global rare disease hub, involving 70 institutions that will allow scientists to share data from their genomics research projects. This will lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases.
The revolution in DNA sequencing, which means an entire human genome can now be sequenced within days and for a little more than $13,000 dollars (or less than €10,000 Euro), has brought the hope of personalized treatments for many of these diseases a step closer.
Professor Hanns Lochmüller of Newcastle University, UK, who is leading the new rare disease hub, said, “Being able to sequence a person’s entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story. It doesn’t replace clinical expertise– in fact, being able to combine genetic data with clinical data is more important than ever.”
Dr. Ségolène Aymé, Emeritus Director of Research at INSERM, the French Institute of Health and Medical Research, added, “Sequencing produces a vast amount of information, but in most cases it will find hundreds of genetic changes in each person. We now need to collate the data internationally to discover which change– or combination of changes– actually causes the disease.”
The International Rare Diseases Research Consortium (IRDiRC), under which these new grants have been awarded, aims to accelerate research into rare diseases. 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. To this end, it is today launching three major projects which will combine international genetic data with clinical information and data on biomaterials to help interpret the vast amounts of data the genome yields. This will aid scientists in the search for genetic causes of diseases and help identify new ways to create targeted therapies”.
Professor Lochmüller said, “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.”
Read more at EurekAlert!. Written by Karen Bidewell.
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