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Projects. Life and Matter Sciences

The generation of iPSC cells for the study of neurodevelopmental diseases: autism and William's syndrome

Lead Researcher:
Ivon Cuscó Martí

Research Centre:
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-Universidad Pompeu Fabra. Barcelona.


Ivon Cuscó Martí 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.

Researcher's web address:

Ivon Cuscó Martí

Current position:
Researcher into the Genetics of Rare Diseases. Centre for Networked Biomedical Research into Rare Diseases (CIBERER-ISCIII).

Education and Professional Experience:

  • 2003: Doctoral thesis (Biology) from the University of Barcelona
  • 1997: Degree in Biology (specialising in Medical Biology).
  • 2003-2008: Postdoctoral Research into Human Genetics. Genetics Unit. Pompeu Fabra University (Juan de la Cierva Programme 2004)
  • 1999-2003: Doctoral studies. Genetics Department of the "Santa Creu i Sant Pau" Hospital, Barcelona.
  • 1997-1999: Training in the hormonology department. "Clínic" Hospital, Barcelona.


  • 2007: Prize at the 9th "International Meeting of Genome Variation" (HGV) for the poster "Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion" (Cusco I et al.)
  • 2001: 2nd Prize for neuromuscular diseases from the Spanish Neurology Society (SEN) for the article published in Human Genetics 108:222-229 (Cusco I et al.)

20 papers published in international journals indexed in PubMed

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