The Biomedicine lab covers almost 900 square meters and is structured in both general open spaces, plus isolated rooms for more specialized activities. The aim of our research is to understand the molecular events occurring in disease by identifying and modelling specific genetic mutations. To do this our researchers first rely on statistical and bioinformatical approaches, including genome-wide linkage and association studies and next-generation sequencing techniques, in order to identify genes and/or mutations of interest. Once genetic changes that contribute to the development of disease have been identified, they then use cellular models to try to understand what is taking place in the cells as a result of those genetic variations. Many technologies in the laboratory support this work, from simple DNA and protein analysis up to more complex molecular characterization techniques. Cell models range from simple 2D mono- or co-cultures in primary or secondary cells, up to advanced 3D spheroids or organoids capable of mimicking certain aspects of human tissue or mini-organs. These cell models can be derived from reference cell lines, and edited with CRISPR/Cas9 technology, or can be drawn from our biobank with samples from participants in our ongoing population health study.

Using single cell electrophysiology, or micro-electrode array (MEA) systems, we can study the electrical properties of all the cell models we generate, and we can also perform static or live high-resolution imaging using our Leica confocal microscope with white-light laser. The Lab also has a Mass Spectrometry facility for undertaking the metabolomic or proteomic characterization of our models in order to look for new biomarkers for health and disease and to study the efficiency of novel interventional strategies for the treatment of disease. As well as using advanced human cell models, we can perform in vivo screening of the effects of certain mutations using the powerful genetics of the C. elegans invertebrate model system.

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