Friday, the 28th of February 2014 marks the seventh International Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from more than 70 countries and regions worldwide organise awareness-raising activities around the slogan “Join Together for Better Care.”
According to EURORDIS, a rare disease is any one that affects fewer than 1 in 2000 Europeans or less than 200 Maltese. Thus, all genetic disorders and cancers could be considered rare disease. Nevertheless, collectively, over 30 million Europeans and their friends and families might be affected in one way or another.
The main objective of the day is to raise awareness amongst the general public, patients and patient representatives, politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases and their impact on patients’ lives.
The Malta Biobank at the University of Malta is a partner in various rare disease networks including RD-Connect, EuroBioBank (EBB), the Biobanking and Biomolecular Resources Research Infrastructure of the European Research Infrastructure Consortium (BBMRI-ERIC), the Fondazione Telethon, and the Electronic Infrastructure for Thalassaemia Research Network (ithanet).
Inter-Operable Biobanks worldwide have recently become essential tools for the global improvement of services and invaluable research on the conditions. Otherwise there is a great risk of them being ignored.
Various rare diseases are found in Malta such as muscular dystrophy, retinoblastoma, cystic fibrosis, haemoglobinopathies, and Familial Mediterranean Fever amongst others.
Representatives from the Malta Biobank attended the second Joint RD-Connect / EURenOmics / NeurOmics meeting 2014 held in Heidelberg between the 24 and 26 February.
RD-Connect is a unique global infrastructure project that links databases, registries, biobanks and clinical bioinformatics, from Universities, hospitals and clinics engaged with rare disease into a central resource for researchers, clinicians and patients worldwide.
It is a six year project funded by the European Union. It will develop an integrated research platform in which complete clinical profiles are combined with biological and clinical data with sample availability for rare disease research, in particular research funded under the International Rare Diseases Research Consortium (IRDiRC).
Strict ethical and legal tools are being developed to ensure sound migration of patients, biomaterials and information using unique identifiers. EURenOmics is a consortium devoted to improving the lives of patients affected by rare kidney diseases while NeurOmics is a consortium which focuses on neurodegenerative and neuromuscular disorders.
Patients, families or those with interests in rare disease who may be willing to join a stakeholders’ group are asked to leave their name and address on joanna.vella@um.edu.mt [1]
More information can be found on the Malta Biobank website: www.um.edu.mt/biobank [2].