Proteomics, transcriptomics and genomics
Molecular methodology management to extract DNA and identify mutations (PCR, Sanger sequencing, NGS). Design and assessment of diagnostic panels.
Extraction and characterisation of RNA (quantitative PCR, real time PCR).
Functional studies of cellular cultures or animal models (zebrafish) to characterise the pathogenic nature of changes identified in the DNA sequence.
Study of minigenes to evaluate splicing alterations.
Construction of plasmids.
Immunoassays (immunofluorescence, western-blot and ELISA).
Confocal fluorescence microscopy.
Methodology and tools to determine and study DNA methylation (treatment with bisulphites, specific methylation PCR, microarray analysis). Analysis of epigenetic regulation.
Methods of diagnosis or prognosis through the assessment of a group of markers and clinical variables to tag individuals at risk.