IP: Dr. Xavier Estivill

Resumen del proyecto: Fibromialgia (FM) is a disorder of unknown ethiology characterized by chronic, generalized pain, in addition to a wide constellation of accompanying symptoms. Genetic factors can explain the variability in the perception of pain. Familial studies have shown a considerable familial aggregation in fibromyalgia and related disorders, suggesting that genetic factors are important triggers of these disorders. The search of genetic susceptibility factors for complex disorders is centered in the identification of genetic variants that occur with a higher frequency in the disease population compared to the general (control) population.
In this project we intend to analyze and identify genomic variants (single nucleotide polymorphisms –SNPs- and copy number variants –CNVs) associated to fibromyalgia, with the objective of getting a better understanding of the disease’s ethiology, and therefore identify potential therapeutic targets. In short, in this project we will identify variants associated to fibromyalgia, as well as perform a first functional approach to analyze their role through genetic expression studies. To achieve this objectives we will perform a whole genome association scan of 2000 fibromyalgia patients and additional CNV specific experiments through array comparative genomic hybridization in a subset of these samples.

Entidad financiadora: CENIT Ministerio de Industria, Turismo y Comercio (MITYC) y Laboratorios ESTEVE