Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/99850
Title: | The clinical bank of BBMRI.mt |
Authors: | Vella, Joanna Borg, Joseph J. Grech, Laura Galdies, Ruth Scerri, Jeanesse Cassar, Wilhelmina Scerri, Christian A. Camilleri, Alexander Bezzina Wettinger, Stephanie Farrugia, Rosienne Camilleri, G. Pace, N.P. Zammit, E. Said Conti, V. Grech, Godfrey Saliba, Christian Soler, Doriette Vella, Norbert R. Borg, Isabella Said, Edith Camilleri Podesta, Marie Therese Ellul, Bridget Felice, T. Grima, David Ebejer, Jean Paul Felice, Alex E. |
Keywords: | Rare diseases -- Malta Biobanks -- Malta Biological resource centers |
Issue Date: | 2015 |
Citation: | Vella, J., Borg, J.J. Grech, L., Galdies, R., Scerri, J., Cassar W…. Felice, A.E. (2015). The clinical bank of BBMRI.mt. HandsOn: Biobanks The EXPOnential relevance of biobanking. Clinical biobanks for personalized medicine, Milan. |
Abstract: | The Malta BioBank (BBMRI.mt) forms part of the new inter-faculty Centre for Molecular Medicine and BioBanking at the University of Malta. The clinical catalogue holds a number of disease collections including: the Globin Bank; Parkinson’s Disease (PD); Diabetes; Multiple Sclerosis; renal disorders; various cancers and rare diseases. The Globin Bank includes samples of patients and carriers with Beta Thalassaemia, Alpha Thalassaemia, and haemoglobinopathies including haemoglobin F Malta and patient samples with High Persistance of Foetal Haemoglobin having the Kruppel Like Factor 1 (KLF1) gene. The Parkinson’s Disease collection is part of the Geoparkinson project and includes DNA samples from 200 cases with PD or parkinsonism and 400 age and gender matched controls and associated lifestyle questionnaires. The Diabetes Collection includes clinical data and DNA samples from newly-diagnosed Type 2 Diabetes Mellitus (T2DM) patients and another collection of DNA and serum specimens of both Maltese and Libyan T2DM patients with advanced end-organ complications. The renal disorder collection includes samples of patients with congenital nephrotic syndrome, Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and Bartter’s syndrome. The cancer collection includes samples of patients with familial breast cancer, familial colon cancer, lung cancer and gastric cancer. The Malta BioBank is a founding partner in EuroBioBank and RD-Connect. Rare disease samples stored in the clinical bank include muscular dystrophy, retinoblastoma, cystic fibrosis and Familial Mediterranean Fever. Two new rare disease collections are planned for patients and families with mitochondrial disorders and sudden cardiac deaths in subjects under 40 years old. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/99850 |
Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
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The_clinical_bank_of_BBMRI_mt.pdf | 428.8 kB | Adobe PDF | View/Open |
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