Characterization of new mutations in known genes and identification of candidate genes involved in hereditary deafness, by whole exome sequencing (WES)
- Dr. Marc Pellicer
- Hospital Vall d’Hebrón
Hearing loss is one of the most common sensory defects, with inherited genetic defects playing an important role and contributing to about 60% of deafness occurring in infants. Hearing impairment (HI) is genetically heterogeneous, and although there is an increasing number of new genes causing deafness being identified, in most cases it has not been possible to establish the pathogenicity of described mutations, being the functional studies the only way to elucidate the function, the underlying mechanisms and the consequent pathogenicity of several of these genes. The objective of this project is to diagnose the molecular defect of each case of Neurosensorial Hearing Loss, using WES (whole exome sequencing) to identify new deafness mutations, and to further study those of unknown pathogenicity. The systematic elucidation of NSHL (Neurosensorial Hearing Loss) genes has translational consequence for improved diagnostic (improving the yield of targeted gene panels), prognostic, and therapeutic options.
PROJECT UNDER EVALUATION
Contact person Dr. Marc Pellicer
Web link www.vhebron.net