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

Awards/Prizes

• 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.)

Publications

20 papers published in international journals indexed in PubMed.