Based at the new Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO) has been designed as a space of excellence for research on the genetic basis of diseases, including cancer, as well as on the influence of genetic inheritance in the body’s response to certain drugs
They have identified a common variant rs4947296 in chromosome 6p21.33, in cases with involvement of both ears, that could define autoimmune inner ear disease. This regulatory variant is an eQTL that influence several genes in the the TWEAK/Fn14 pathway Furthermore, they have defined novel mutations for familial MD in FAM136A, PRKCB, DTNA, DPT and SEMA3D genes in 4 families with autosomal dominant inheritance. Currently, they are assessing the functional role of these genes in a stem cell and zebrafish model.
They are developing an integrated network of molecular pathways, the MDmap, which includes multi-omics data to define endophenotypes according to specific mechanisms of the disease.
Current research areas for which they have received €4 million of funding from the EU :
Line 1. Genetic contribution to autoimmune Ménière’s disease (MD).
Line 2. Identification of driver genes in familial Ménière’s disease
Line 3. Molecular mechanisms of the immune response to molds in MD
Line 4. Development of a cellular model in familial Meniere’s disease.
Line 5. Molecular basis of hiperacusia and tinnitus in Meniere’s disease.
Line 6: Genetic basis of cerebellar ataxia, neuropathy and bilateral vestibular arreflexia syndrome (CANVAS)