e-Infrastructures Revolutionising Thalassaemia Treatment

So named for the fact that its sufferers tend to live near the sea (‘thalassa’ and ‘haemia’ are the Greek words for ‘sea’ and ‘blood’), thalassaemia is the most prevalent of a group of blood diseases called haemoglobinopathies, all inherited genetic disorders of haemoglobin—the red blood cell molecule that carries oxygen. Haemoglobinopathies and their related conditions affect some 300,000 newborn infants every year, compromising the ability of their blood to carry oxygen. Funded by the EU, the ITHANET project (Electronic Infrastructure for Thalassaemia Research Network) is strengthening thalassaemia research by helping scientists across Europe and the Mediterranean to share their medical expertise. The project aims to link relevant Mediterranean research centres with those in the wider European research community, using the power of the highspeed EUMEDCONNECT2 and GÉANT2 networks. Researchers are thus able to co-operate in multi-centre studies, to exchange information, to provide second opinions using videoconferencing and to develop effective treatments and innovative drug therapies.

Saving lives
ITHANET is transforming the outlook for children affected by these diseases. Without effective treatment, thalassaemia is usually fatal within the first decade of life. Prevention of the disease is of primary importance. There has been considerable success implementing preventative programmes in European countries such as Cyprus, Greece and Italy, but countries with poorer economic resources face considerable obstacles to effective treatment. Until the launch of ITHANET, understanding and experience of treatment was spread unevenly among a variety of research centres, limited in their ability to co-operate by the basic e-Infrastructure tools available. ITHANET has since introduced a range of advanced tools, including videoconferencing, grid computing and e-learning, that are strengthening research throughout the Mediterranean region, bringing benefits to people for whom sophisticated diagnostic and treatment programmes were previously inaccessible.

A rich toolbox
The rich variety of e-Infrastructure tools used by ITHANET supports the fast-moving field of haemoglobinopathy research and offers speedy access to news, communications systems, streamed online training courses and grid computing facilities. The ITHANET community is working to use the power of EUMEDCONNECT2 to leverage the technical work of research institutes across the European mainland and the Mediterranean fringe. For example, researchers at the Cyprus Institute of Neurology and Genetics, the Makarios Hospital in Cyprus, the Erasmus Medical Centre in the Netherlands and ThalLab at Ferrara University in Italy are working together to develop a grid-enabled application that will model the behaviour of different drugs and thus assess their suitability as thalassaemia therapies.
The ITHANET community is also investigating the possibility of using grids and their underlying network infrastructure for other applications that require the rapid and secure transfer of large volumes of data, including management of patient records, comparison and evaluation of MRI techniques, and the diagnosis of thalassaemia-related osteoporosis. For example, one collaboration, involving researchers from ThalLab in Ferrara in Italy, the University of Cairo in Egypt, and the Hadassah University Hospital in Jerusalem, is looking for drug-based alternatives to blood transfusion, currently the principal treatment for thalassaemia. Although transfusion is a life-saving therapy, there is a risk to patients of transmitted infections and viruses like hepatitis, which is a substantial risk in less developed countries, where blood reserves are scarce and screening is less advanced. This project is using the flexibility and power of grid computing to seek and develop chemical compounds that can induce the production of haemoglobin as an alternative therapy to transfusion.