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Eliminating rare diseases
Date:1/24/2013

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. 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 Lochmller 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 Sgolne Aym, 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 Internation
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Contact: Karen Bidewell
press.office@ncl.ac.uk
44-019-122-27850
Newcastle University
Source:Eurekalert

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