Genomics and Disease

Genomics and Disease

Bioinformatics and Genomics

Genomics and Disease

Group leader
j

Genomics and Disease

Group leader
j

1979 Graduated in Medicine and Surgery, Universitat Autònoma de Barcelona (Spain).
1985 Haematology Specialist, Universitat Autònoma de Barcelona, (Spain).
1987 Ph.D. in Medicine, Universitat Autònoma de Barcelona, (Spain).
1995 PhD in Genetics, University of London (United Kingdom).
1980-1982 Clinical Fellow (Medical Intern Resident), Hospital de Bellvitge, L'Hospitalet, Barcelona (Spain).
1982-1985 Clinical Fellow (Medical Intern Resident), Hospital de Sant Pau, Barcelona (Spain).
1986-1989 Research Fellow, Biochemistry and Molecular Genetics Department, Saint Mary’s Hospital Medical School, London, (United Kingdom).
1988-1990 Research Professor, Molecular Genetics. Fundació d'Investigació Sant Pau, Barcelona (Spain).
1991-1997 Head of the Genetics Service, Hospital Clínic, Barcelona (Spain).
1997-2007 Senior Consultant (leave of absence), Hospital Clínic, Barcelona (Spain).
1991-2001 Head of the Molecular Genetics Department, Institut de Recerca Oncològica (IRO), Barcelona (Spain).
2001-2002 Visiting scientist, Hospital for Sick Children, University of Toronto (Canada)
2003-2011 Director of the Barcelona Node of the National Center of Genotyping (CeGen), Barcelona, (Spain)
2002-2012 Director of the Genes and Disease Programme, Centre de Regulació Genòmica, Barcelona, (Spain)
2002- Associate Professor, Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), Barcelona (Spain)
2002- Senior Group Leader, Genetic Causes of Disease Laboratory, Centre de Regulació Genòmica, Barcelona, (Spain)
2013- Head of the Genomics and Personalized Medicine Unit, University Hospital Quirón Dexeus, Women's Health Department, Spain

More information:

Group News

Functional genetic variation in humans: Comprehensive map published (15/09/2013)
European consortium presents the largest-ever study of functional genetic variation in human populations using RNA sequencing 

Summary

We are interested in the evaluation of how different types of genetic variants (single nucleotide variants, structural variations, mainly copy number variants, and insertion/deletion variants, including transposable elements) contribute to common and rare human disorders.

We are also exploring the contribution of epigenetic modifications and non-coding RNA pathways in complex diseases, mainly neuropsychiatric and neurodegenerative disorders.

We approach these questions through very well characterized cohorts of patients and the use of high-throughput genomic platforms and functional studies including longitudinal studies of patients at different time-points and cohorts in which exposure to environment has been monitored.