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|Title:||Rare disease research and the Malta biobank|
Camilleri Podesta, Marie Therese
Pace, Nikolai P.
Felice, Alex E.
Said Conti, Valerie
|Keywords:||Rare diseases -- Malta|
Biobanks -- Malta
|Publisher:||University of Malta. Department of Pathology|
|Citation:||Vella, J., Borg, J., Grech, L., Galdies, R., Scerri, J., Cassar, W.,...Felice, A. E. (2015). Rare disease research and the Malta biobank. RD-Connect Annual Meeting, Palma de Mallorca.|
|Abstract:||The Malta BioBank forms part of the new inter-faculty Centre of Molecular Medicine and BioBanking at the University of Malta and is the national node of the Bio-Banking and Bio-Molecular Resources Research Infrastructure (BBMRI.mt). The clinical catalogue holds a number of rare disease collections including haemoglobinopathies, neuromuscular and neurodegenerative diseases, renal disorders and various cancers. The Department of Physiology & Biochemistry and the Department of Pathology within the Faculty of Medicine & Surgery at the University of Malta caries out various lines of research amongst which are KLF mutation analysis, familial breast cancer, mitochondrial disorders, sudden cardiac death and rare kidney disorders.|
|Appears in Collections:||Scholarly Works - FacM&SPat|
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