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Genomics and Disease

Group leader:  Xavier Estivill


We are interested in the evaluation of how different types of genetic variants (single nucleotide variants, SNVs; structural variations (SVs), mainly copy number variants or CNVs; and insertion/deletion variants, including transposable elements) contribute to 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 longitudi- nal studies of patients at different time-points and cohorts in which exposure to environment has been monitored.

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