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project info
Start date: 10 March 2017
End date: 1 June 2022
funding
Fund: European Regional Development Fund (ERDF)
Total budget: 250 000,00 €
EU contribution: 212 500,00 € (85%)
programme
Programming period: 2014-2020
Managing authority: Γενική Διεύθυνση Ευρωπαϊκών Προγραμμάτων, Συντονισμού και Ανάπτυξης
beneficiary
The Cyprus Foundation for Muscular Dystrophy Research Κυπριακό 'Ιδρυμα Ερευνών για τη Μυϊκή Δυστροφία (The Cyprus Institute of Neurology and Genetics) (The Cyprus Foundation for Muscular Dystrophy Research Kupriako 'Idruma Ereunon gia ti Muiki Dustrofia (The Cyprus Institute of Neurology and Genetics))
European Commission Topic

Extension of the international ITHANET portal for haemoglobin diseases

Hemoglobin diseases are the most common monogenic diseases, with millions of carriers and patients worldwide. In the case of Cyprus, 12 % – 15 % of the population are carriers of beta-thalassemia, making it one of the most common monogenic diseases on the island. To a large extent, online sources for haemoglobin disease are divided into specialised websites for patients, researchers and clinicians separately. However, the severity, dissemination and genetic complexity of haemoglobinopathy call for a comprehensive website and a free/open and comprehensive tool for patients, scientists and health professionals. The ITHANET portal (http://www.ithanet.eu) is an upgrade and extension of the resources available for clinical doctors and researchers dealing with haemoglobin disease. It incorporates information on news, events, publications and clinical trials, organisms and specialists dealing with haemoglobin disease, diagnostic protocols, clinical guidelines and educational articles and, in particular, databases of mutations, epidemiology and diagnostic and clinical data related to haemoglobinopathy. The proposed project aims to expand the functionality and content of the ITHANET portal and to enhance its international role as a benchmark for issues related to the research, treatment and diagnosis of haemoglobin diseases and as a daily scientific source for patients, carriers and everyone interested in haemoglobin disease. This will be achieved by (1) the classification and interpretation of mutations related to haemoglobin disease based on internationally established standards and guidelines, (2) conducting an epidemiological study worldwide, focusing on micromapping and migration impacts, and (3) developing the first database.

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