EU Researchers Tackle Borderless Diseases

Nations worldwide have programmes in place to track, treat and research common diseases. Despite their successes, however, some of these programmes are duplicated in many countries, while other nations lack access to key information. To address this problem, researchers in Europe used electronic infrastructures (e-Infrastructures) to coordinate and combine a variety of tools, databases, grids and Web portals. The results are part of the ITHANET (eInfrastructure for thalassaemia research network) project, funded under the EU's Sixth Framework Programme (FP6). Financial support for ITHANET amounted to EUR 1.2 million.

The ITHANET partners focused their research on a specific group of blood disorders: a special type of inherited anaemia, called thalassaemia. This disease is particularly prevalent among Mediterranean people.

Thalassaemia needs two out of one set of multiple genes to be defective, according to the researchers. A carrier of this complex disease has only one 'broken' gene, while a patient diagnosed with it has two broken genes.

"If parents each carry the disease, then there is a one-in-four chance that the child suffers from [the disease]. And there are degrees, too, depending on the type of broken gene each carrier has," said Carsten Lederer, a post-doctoral researcher at the Cyprus Institute of Neurology and Genetics, and ITHANET member.

"Haemoglobin disorders are common, potentially lethal, diseases posing a global health challenge," Dr Lederer explained. "With global migration and intermixing of carriers, demanding flexible health planning and patient care, haemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the collection of data, dissemination of knowledge, harmonisation of treatment and coordination of research."

Anaemia is the most common symptom of thalassaemia, but secondary complications may also put sufferers' lives at risk. According to the ITHANET team, if thalassaemia is left untreated, sufferers can die within the first 10 years of their lives. Despite being treated, however, sufferers must undergo many blood transfusions and restrict their activities.

The ITHANET consortium is based on the knowledge of experts coming from 26 organisations out of 16 nations including Egypt, Greece, Israel, Italy, Malta, Spain and Tunisia. The connection of these experts proved very beneficial as each one had unique, invaluable knowledge and experience.

"The problem is many of these experts are still very unfamiliar with computer technology. Some researchers had no e-mail of their own," Dr Lederer remarked. "In other cases, there is little or no electronic infrastructure, and most patient records are still on paper.

"Chances are, one of the experts in one of the countries where this disease is common has experience with a particular combination of defects. The problem is, it is probably just written down in some notebook somewhere."

ITHANET targets bringing the 'hidden' knowledge to light, educating researchers about e-Infrastructures and fuelling the development and use of appropriate tools and technology.

The project provided the basis for future collaboration on inherited anaemia. According to the researchers, ITHANET could serve as a model for coordination and cooperation for other diseases, on a global scale.

For more information, please visit:

Copyright ©European Communities, 2009
Neither the Office for Official Publications of the European Communities, nor any person acting on its behalf, is responsible for the use, which might be made of the attached information. The attached information is drawn from the Community R&D Information Service (CORDIS). The CORDIS services are carried on the CORDIS Host in Luxembourg - http://cordis.europa.eu. Access to CORDIS is currently available free-of-charge.

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