04/07/2012 - 12:00 - Auditori PRBB

Small RNA mediated toxicity in trinucleotide repeat disorders

Scientific sessions, CRG Group Leader Seminars

Xavier Estivill

Genes and Disease Programme, CRG

Xavier Estivill studied Medicine, specialized in Haematology and obtained the doctorate in Medicine by the Autonomous University of Barcelona (1987) and in Philosophy by the University of London (1995) for studies on the molecular genetics of cystic fibrosis. He directed the Genetics Service of the Clinic Hospital and the Cancer Genetics Institute in Barcelona, and was visiting scientist at the Hospital for Sick Children in Toronto. In 2002 he was appointed head of the Genes and Disease Program at the Centre Genomic Regulation (CRG).

His research has contributed to the understanding of many Mendelian disorders. Current work of his group is focused on the analysis of the role of structural variants, epigenetic changes, and non-coding RNAs in human disease. Recent achievements of his group have been on the identification of genetic variants associated with psoriasis and several psychiatric diseases, and the description of toxicity of small RNAs in Huntington’s disease. His talk will be focused on the toxic role of small RNAs in repeat expansion disorders.