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Title: Rare disease research and the Malta biobank
Authors: Vella, Joanna
Borg, Joseph
Grech, Laura
Galdies, Ruth
Scerri, Jeanesse
Cassar, Wilhelmina
Scerri, Christian
Grech, Godfrey
Soler, Doriette
Said, Edith
Borg, Isabella
Vella, Norbert
Camilleri-Podesta, Marie Therese
Ellul, Bridget
Abela, Mark
Grima, David
Zammit, Esther
Pace, Nikolai Paul
Felice, Alex E.
Said Conti, Valerie
Keywords: Rare diseases -- Malta
Biobanks -- Malta
Issue Date: 2015-03
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 ( 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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