Florian Huber is a Research Associate at Paracelsus Medical University's Institute of Pharmacology and Toxicology, investigating molecular mechanisms of genetic hearing disorders. His work focuses on ubiquitin-proteasome regulation of pendrin (SLC26A4) variants associated with Pendred syndrome. Recent studies demonstrate how proteasome inhibitors rescue function of pathogenic pendrin mutants, offering therapeutic pathways for hearing restoration. Huber develops experimental and computational approaches to map degradation pathways of membrane transport proteins. He supervises medical doctoral candidates and teaches pharmacology in graduate programs.
Sebastian Rösch is a Clinical Associate Professor and Senior Consultant at the Department of Ear, Nose and Throat Diseases, Faculty of Medicine, Paracelsus Medical University, Salzburg, Austria. Holding the academic title of Privatdozent, he integrates clinical practice with research in hearing disorders and genetic ENT pathologies. His research focuses on hearing impairment mechanisms , genetic hearing loss (including SERAC1-related syndromes and SLC26A4/pendrin pathways), and diagnostic innovations such as elastography and superior canal dehiscence assessment. He investigates molecular determinants of hearing loss and neural processing in deafness, bridging basic science with clinical rehabilitation strategies. Analysis of his 93 publications reveals increasing emphasis on genetic diagnostics (e.g., GJB2/CDH23 variants) and rehabilitation techniques, with 42 publications in 2023-2025 alone. Key themes include steroid therapies for hearing preservation, neural entrainment in cochlear implant candidates, and molecular pathogenesis of vestibular aqueduct disorders. Rösch secured leadership roles in two major projects: an interdisciplinary study of congenital hearing loss with SLC26A4 mutations (2016-2017) and speech-neural entrainment research for cochlear implant rehabilitation (2018-2022). He serves as Editor-in-Chief for Journal of Clinical Medicine (2022-2023) and collaborates with the European Network for Genetic Hearing Impairment since 2020.
Silvia Dossena, PhD, is an Associate Professor and Interim Director at the Institute of Pharmacology and Toxicology, Paracelsus Medical University. Her research focuses on oxidative stress mechanisms in cellular aging, genetic determinants of hearing loss, and the pathophysiology of pendrin (SLC26A4) protein variants in Pendred syndrome/DFNB4 disorders. Active in molecular pharmacology and toxicology Supervisor of pharmacy research projects Her work spans molecular biology, genetics, and pharmacology, with a strong emphasis on antioxidant therapies and ion transport systems. Recent studies highlight her exploration of proteasome inhibitors for rescuing pendrin function and natural compounds like Acai berry extract in combating erythrocyte aging. She has received multiple prestigious awards from Paracelsus Medical University, including the Platinum Price for Research (2014). Key projects include "Identification of novel therapeutic targets in Pendred syndrome/DFNB4" Active in peer-review and editorial work for journals like Current Molecular Pharmacology
Martin Jakab is a full-time Professor at the Institute of Physiology and Pathophysiology , Paracelsus Medical University, Salzburg. His research focuses on cell physiology , particularly chondrocyte biology , genetic disorders , and epigenetic mechanisms in cancer . Role: Head of Laboratory Key Collaborators: Michael Ritter, Christian Mayr, Sabina Dossena Research Trends : Recent work spans ferroptosis inhibition in chondrocytes , mouse models for Pendred syndrome , and epigenetic therapies for biliary tract cancer . His studies emphasize ion transporters , protein degradation pathways , and novel pharmacological agents . Scientific Awards : Forscher des Jahres 2007 Sackler-Preis 1997 Silberner Wissenschaftspreis 2008 Wissenschaftspreis in Bronze (2013, 2014) Advising : Supervised multiple graduate theses on topics including inflammasome activation in osteoarthritis and epilepsy pathophysiology . Collaborative projects highlight his leadership in cell-based assays and chloride channel research .
Emanuele Bernardinelli is a Research Associate at Paracelsus Medical University's Institute of Pharmacology and Toxicology, focusing on the molecular genetics of pendrin-related hearing disorders. His research investigates pathogenic mechanisms of SLC26A4 mutations in Pendred syndrome and non-syndromic hearing loss. He holds a Dr. rer.nat. and PhD, with research spanning protein biochemistry, genetic heterogeneity in hearing disorders, and therapeutic strategies targeting protein degradation pathways. Bernardinelli received the Silver (2018) and Bronze (2017) Research Awards from Paracelsus Medical University for outstanding contributions. His work utilizes cellular models, proteomic approaches, and genetic screening to study pendrin protein function and dysfunction. Recent publications explore ubiquitin-proteasome system interventions, novel genetic determinants of hearing loss, and mouse models of DFNB4/Pendred syndrome. Bernardinelli collaborates internationally on auditory research projects and contributes to large-scale genetic studies through the GALAH survey consortium. His methodology development includes novel approaches for studying pendrin's role in ENT disorders.
Lennart Weitgasser is a researcher affiliated with the Department of Otorhinolaryngology, Head and Neck Surgery at the Salk Institute for Biological Studies. His work spans molecular biology, pharmacology, and neuroscience, with a focus on hearing disorders and pharmacological interventions. Role: Researcher Department: Otorhinolaryngology, Head and Neck Surgery Institution: Salk Institute for Biological Studies Research Interests: Weitgasser's research centers on sensory hearing mechanisms , steroid-based therapies , and genetic disorders linking renal tubular acidosis with auditory dysfunction. His work involves animal models of Pendred syndrome and molecular studies of transcription factors like FOXI1. Scientific Contributions: Recent publications highlight collaborations on glucocorticoid efficacy in treating hearing loss and genetic variant analysis in syndromic hearing disorders. His projects include modeling SLC26A4 mutations and exploring corticosteroid applications.
