An EU-funded project has trained a new generation of researchers in mitochondrial disease - a range of rare disorders emerging as a new field of medical interest. The research, which included the discovery of novel genes associated with the disease, is feeding into the search for better diagnosis and treatment for the disorder.
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Mitochondria are tiny bodies in human cells that generate energy. When they fail to work properly, usually due to faulty genes, they can cause a wide variety of so-called mitochondrial diseases. There are many hundreds of such disorders which can affect several body systems and are extremely difficult to diagnose.
“These diseases are rare when taken separately, but as a subset of human illnesses they represent a substantial portion,” says Giuseppe Gasparre of the University of Bologna and coordinator of the EU-funded MEET project. “Unfortunately, cures have hardly been developed, and therapies mainly slow down fatal progression of the disease, or temporarily attenuate symptoms.”
The project’s researchers pursued several lines of investigation, both at a basic and a clinical level. Over a four-year period, they contributed to 40 research publications and there are more to come.
“The most immediate impact will be on diagnosis,” says Gasparre. “As a large fraction of patients have not yet received a genetic diagnosis for their mitochondrial disease, the discovery of novel disease-associated genes that MEET accomplished will aid genetic analyses and diagnostic procedures, and speed up therapeutic choice.”
MEET also aimed to advance understanding of mitochondrial disease by training a new generation of young researchers. The training focused on helping to bridge the gap between basic and applied research in mitochondrial medicine.
Working with patients
MEET supported 11 PhD students and three postdoctoral researchers through the EU’s Marie SkÅ‚odowska-Curie funding programme. With the aim of developing a European community of mitochondrial researchers, each fellow was based at one of the nine academic and industrial partners and also participated in an extensive programme of training and secondments.
Alongside the scientific training, the fellows learned how to write proposals for EU funding, commercialise research innovations and communicate scientific information. The latter was especially important as building links between researchers and patients was central to the project.
“Usually the patient is considered as someone external to research activities,” says project manager Serena Paterlini, who also supervised MEET’s outreach work. “On the contrary, the MEET consortium wanted to put patients in the centre. We brought researchers out from their labs and put patients into the labs. For many of our fellows it was the first time they really had contact with someone suffering from the diseases they were researching.”
The project has produced videos some with a commentary in sign language and a colouring book to help children understand mitochondrial disease. Patients and their families were invited to suggest project activities through the MEET website. And on their own initiative, the research fellows raised over €3 000 for the International Mito-Patients (IMP) charity to help develop a standard therapy for muscular pain in mitochondrial disease.
A diagnosis for better treatments
The MEET fellows now have the tools to build their own careers in academia or industry. “They know they had a great opportunity,” Paterlini says. “It was not a normal PhD programme but something extraordinary.”
Although the project has finished, the partners are seeking funds to continue the training. Unfortunately, says Gasparre, there is no specific programme to guarantee continuity for successful projects and the researchers that benefit from them.
“Four years may not be long enough to witness a young scientist blossom, and in the consortium’s opinion initiatives promoting continuity would be more than welcome,” he adds.