Research projects

The proposed aims of the first stages of the project chiefly centred on the selection of candidate patients by means of molecular characterisation using genomic arrays, obtaining their informed consent to take part and obtaining biological material (in this case, total blood and a skin biopsy) to commence studies on the generation of iPSC cells. These cells are the key factor in this project, based on the generation of reciprocal genetic models and aimed at discovering the functional bases involved in Williams-Beuren syndrome (WBS) and Autistic Spectrum Disorders (ASD).

In December, 2012, the necessary material is available to start generating iPSC.

1. After characterising a large series of candidate patients, samples of 3 patients were selected and recruited with duplication of 7q11.23 (characterised by genomic array) and 2 patients with reciprocal deletion 7q11.13 (by means of MLPA studies and microsatellites). After recruiting patients for the study (with their informed consent), skin biopsies were obtained, from which the fibrocytes were isolated to create the "Induced Pluripotent Stem Cells" cell model. Twenty frozen cryotubes of primary culture are available of each of the cell lines to be studied.
2. The presence of the genetic alteration in the fibrocyte cultures was validated using MLPA molecular technique, and a standard kariotype was performed to ensure that there were no additional alterations arising due to the culture process in any of them.

It is planned to commence the process of creating the IPSC in January - February, 2013.