The Molecular and Regenerative Medicine Laboratory

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Location

Building 8, Laboratory 1.19

Department of Biomedical Sciences and Medicine.

University of Algarve

Phone: +351 289 800 094

gtiscornia@ualg.pt

Team Members

Gustavo Tiscornia (Principal Investigator)
Marta Vitorino (Postdoc Student)
Dino Matias (PhD student)
Diogo Prata (MSs Student)
Goncalo Pinheiro (Research Assistant)
Pedro Almeida (Cardiac Technician)

About the MRML

The Molecular and Regenerative Medicine Laboratory (MRML) investigates human disease modelling using induced pluripotent stem cells (iPSc) derived from fibroblasts obtained from patients, with particular attention directed towards lysosomal storage disorders of neuronopathic Gaucher’s Disease and Fabry Disease. Both diseases are caused by mutations in particular catabolic enzymes of the lysosomal compartment, resulting in unstable enzymes, miss-trafficking to the lysosome and substrate accumulation. The MRML unit has developed and characterized in vitro Gaucher’s disease models and successfully differentiated these to both macrophages and neurons. This system is being used to validate small molecules that can act as molecular chaperones to refold the affected enzyme and restore activity. In Fabry Disease the main cellular type affected are cardiomyocytes, resulting in severe cardiac complications. In collaboration with the Centro Hospitalario de Guimaraes, we are developing an iPSc model for Fabry Disease. Our lab is also investigating the trans-differentiation of adult somatic cells to pancreatic beta cells.

Publications (2008-2014)

G. Tiscornia, E. Lorenzo Vivas, L. Matalonga,  I. Berniakovich, M. Barragan Monasterio, C. Eguizabal, L. Gort, F. Gonzalez, C. Ortiz Mellet, J.M.  García Fernández, A. Ribes, A. Veiga and J.C. Izpisúa Belmonte, Neuronopathic Gaucher’s disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. Human Molecular Genetics, 22(4):633-45 (doi:10.1093/hmg/dds471)

G.   Tiscornia, E. Lorenzo Vivas and J. C. Izpisúa Belmonte, 2011. Diseases in a Dish: modeling human disease with induced pluripotent stem cells. Nature Medicine Vol.17(12): 1570-1576.

G. Tiscornia, N. Monserrat and J.C. Izpisúa Belmonte, 2011. Modelling Long QT Syndrome in iPS cells: Be still, my beating heart…, Circ. Res. 108: 648-649.

 G. Tiscornia and J.C. Izpisúa Belmonte, 2010. MicroRNAs in Stem Cell Function and Fate, Genes & Dev. 2010. 24: 2732-2741.

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Project Grants

FP7-PEOPLE-2011-CIG (# FP7-304225) – In vitro derivation of beta cells by ectopic expression of Pancreatic Transcription Factors. Marie Curie Career Integration Grant

Genzyme Young Investigator Award – Development of an iPSc model for Gaucher’s Disease Type II

Project leader

The High Q Foundation, (2004) Lenti-viral delivery of siRNA against Huntington.

Spanish MCyT, (2007) The Role of MicroRNAs in Stem Cell Self Renewal and Differentiation.

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