SCIENTISTS in the North East will head a multi-million pound research programme that could unlock the genetic faults of millions of patients with rare diseases.
Newcastle University will lead 70 research centres across Europe hoping to find new treatments for genetic diseases such as muscular dystrophy, haemophilia and cystic fibrosis.
Newcastle’s position as a world leader – following groundbreaking research on new genetic treatments for Duchenne muscular dystrophy – has seen it handed control of the £32m EU programme.
Already scientists believe they have uncovered a breakthrough in the treatment of the muscle-wasting disorder Duchenne. Individual or “personalised treatment” is being developed that could be used if clinical trials prove successful.
Newcastle’s Prof Hans Lochmüller, speaking from Barcelona where he is helping to launch the project, said: “We do not start from scratch. There is previous research in which Newcastle has been very much involved.
“Duchenne is a muscle-wasting disorder which means young people must use a wheelchair. If you can understand what their genetic fault is then you can apply a drug and that would repair the defective gene. The gene is basically patched and a protein can be made which is not being made for those suffering from muscular dystrophy.
“It’s a personalised medicine that would be the result of this research. It is at the clinical trial stage, and if the trials show the drug is safe and well then it can be used in treatments.”
Prof Lochmüller will head the six-year RD-Connect research strand which collates and analyses data from the different institutions. It is part of the central hub that will allow scientists to share data from their genomics research projects.
It is hoped that this will lead to faster diagnosis, better treatments and improve the quality of life for patients.
Prof Lochmüller 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.”
The International Rare Diseases Research Consortium aims to accelerate research into rare diseases. Scientists are bidding to reach 200 new rare disease therapies, and diagnoses for all rare diseases, by the year 2020 with the help of 25 funding organisations and centres from across the globe.
“All these diseases are disabling and lethal,” said Prof Lochmüller. “Most of them do not have proper diagnosis and a lot of people need help.
“This research will unlock the genetic faults that cause these conditions. Because they are so rare, we need a large-scale study across a large sample to analyse the data.”
