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.
Variant discovery, functional characterisation, and clinical translation
Hereditary Hearing Loss & Rare Genetic Disorders
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.
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Building the audiometric baseline that makes clinical trials interpretable
Genotype–Phenotype Correlations & Natural History
International cohort studies and systematic reviews addressing disease progression, audiological phenotyping, and the natural history baselines required for emerging gene- and oligonucleotide-based therapies.
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Outcome evaluation in genetically characterised populations and auditory profiling
Cochlear Implantation & Auditory Outcomes
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.
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Self-administered assessments and hybrid care models for hearing rehabilitation
Remote Care, Computational Audiology, and ICU noise reduction
Design and validation of remote and self-administered protocols to extend accessibility and patient autonomy, from cochlear implant fitting to critical care noise assessment.
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Audiological safety and outcome measures in Phase 1/2 trials for inner-ear therapies
Clinical Trials & Inner-Ear Therapeutics
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.
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