Development of new diagnostic tools and treatments for people with rare diseases

Prof Hanns Lochmuller

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. 80% 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 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 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 less than 10,000 Euro, has brought the hope of personalized treatments for many of these diseases a step closer.

Professor Hanns Lochmuller 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."

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