IMIM - Institut Hospital del Mar d'Investigacions Mèdiques

Genetic causes of disease Xavier Estivill

The genetic cause of disease research group is a CRG (Centre for Genomic Regulation) research group that is associated with IMIM. We are interested on how different types of genetic variants (single nucleotide polymorphisms, SNPs; structural variations, mainly copy number variants or CNVs, and insertion/deletion variants, including transposable elements) influence human disorders. We are also interested in studying the contribution of epigenetic modifications and non-coding RNA pathways in complex diseases, mainly neuropsychiatric and neurodegenerative disorders.

We are approaching these questions through genomic approaches that interrogate SNPs, CNVs and methylation, including high-throughput sequencing for the characterization of the exome and transcriptome. Besides, we are developing functional studies to address the consequences of genetic and epigenetic changes in physiology and pathology.

The interaction of genetic factors with different environmental conditions is one of the main areas of research of the group. Finally, we are interested in the role of non-coding RNAs in human disease, in particular in neurodegenerative disorders.


Xavier Estivill

93 316 01 38

93 316 04 10

Dr. Aiguader, 88
08003 Barcelona

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