IBS, Instituto de Investigación Biosanitaria de Granada (ibs.GRANADA)-Fundación FIBAO, Jose Antonio Lopez-Escamez, MD PhD - PI; Sana Amanat, PhD student; Patricia Perez-Carpena, PhD student.
Principal Investigator at Genyo since 2012 leads the Otology and Neurotology Group dedicated to genomics of vestibular disorders and tinnitus. The group is composed of 1 Associate Clinical Researcher (Juan M Espinosa-Sanchez, MD), 1 Postdoctoral Researchers (Teresa Requena) and 5 PhD Students (Alvaro Gallego, Pablo Roman, Marisa Flook, Patricia Perez-Carpena and Sana Amanat). Patricia is clinical resident in otorhinolaryngology with special interest in Audiology and tinnitus research. She is dedicated to clinical characterization of tinnitus in patients with Meniere disease to define a subset of individuals with extreme phenotype. Sana Amanat is Master in Computer Sciences from Pakistan and she will be working on the bioinformatics analyses of genomic data from patients with tinnitus. The laboratory has conducted genome-wide association and exome sequencing studies in familial and sporadic Meniere disease and started to define the contribution of rare variants in coding regions in familial cases and regulatory variants in NF-kB mediated Meniere’s disease. The laboratory has developed a combined bioinformatics pipeline for analysis of sequencing data from small families and sporadic cases to improve the diagnostic yield of rare variants in different tissue-specific gene datasets. The laboratory will provide expertise in functional genomics and bioinformatics.