Research themes in hearing, genetics, and auditory rehabilitation

Projects

An overview of my main clinical–scientific research lines. Each section links to a dedicated page with background, key findings, and related write-ups.

The projects are organised around a shared question: how does genetic and audiological variability shape the outcome of interventions? Hereditary hearing loss provides the genetic models and natural history; cochlear implantation outcomes show how genotype translates to real-world performance; inner-ear gene therapy trials are the emerging therapeutic frontier; and remote monitoring with auditory profiling supply the measurement infrastructure that links all of it together. Together, the five lines form a genotype → phenotype → intervention → outcome pipeline that runs from the lab bench to the clinic and back.

Hereditary Hearing Loss & Rare Genetic Disorders

Variant discovery, functional characterisation, and clinical translation

Identification and interpretation of pathogenic variants in rare hereditary hearing disorders, with a focus on previously unsolved cases and direct clinical impact on diagnostics and counseling.

Genotype–Phenotype Correlations & Natural History

Building the audiometric baseline that makes clinical trials interpretable

International cohort studies and systematic reviews addressing disease progression, audiological phenotyping, and the natural history baselines required for emerging gene- and oligonucleotide-based therapies.

Cochlear Implantation & Auditory Outcomes

Outcome evaluation in genetically characterised populations and auditory profiling

Development of auditory profiling metrics linking genotype and site-of-lesion to cochlear implant performance, together with long-term outcome evaluations and contribution to international consensus on indication criteria.

Remote Care, Computational Audiology, and ICU noise reduction

Self-administered assessments and hybrid care models for hearing rehabilitation

Design and validation of remote and self-administered protocols to extend accessibility and patient autonomy, from cochlear implant fitting to critical care noise assessment.

Clinical Trials & Inner-Ear Therapeutics

Audiological safety and outcome measures in Phase 1/2 trials for inner-ear therapies

Design and interpretation of audiological endpoints in early-phase trials for inner-ear gene therapy and pharmacotherapy, including sudden deafness treatments and cisplatin ototoxicity prevention.