Gene therapy for congenital hearing loss & AAV engineering
“The amenability of AAV vectors for capsid and genome engineering allows us to design and optimize precision gene medicines for genetic diseases”.
DR. CARMEN UNZU RESEARCHER. GENE THERAPY FOR CONGENITAL HEARING LOSS & AAV ENGINEERING RESEARCH GROUP
Hearing loss is the most common sensory impairment in the population, with more than 400 million affected worldwide. Over half the cases of non-syndromic congenital hearing loss have a genetic cause, with an onset during the first months of life, that impairs the cognitive, social and emotional development of the children and their families. Gene therapy has the potential to prevent and recover hearing impairment, and adeno-associated viral vectors (AAVs) are the flagship delivery vehicle of therapeutic genes to the affected cells.
At a basic research level, we work on AAV vector optimization to increase their potency and reduce their immunogenicity in patients.
At a translational level, our research is focused in the preclinical development of precision gene therapies for hearing loss.
To this aim, we collaborate with key national and international research groups in a highly multidisciplinary and translational environment. Noteworthy, we work together with Dr. Manuel Manrique and Raquel Manrique and the Department of Otorhinolaryngology at CUN, an international reference in cochlear implants for hearing loss from infants to adults.
Objectives of our research
of AAV capsid and genome elements that affect their therapeutic potency.
of innovative strategies to reduce AAV immunogenicity.
of precision gene therapies for congenital hearing loss.
Mutations in the GJB2 gene, encoding the protein Connexin 26, cause a primary defect in cochlear non-sensory epithelia, and are responsible for more than 50% of non-syndromic hearing loss cases (prevalence of 2-3 cases per 10000 births).
Connexin 26 deficiency results in incomplete development of the Organ of Corti in the cochlea causing profound hearing loss from birth.
Meet the research team
Scientific activity of the Gene therapy
for congenital hearing loss & AAV engineering
Latest scientific publications
- Ancestral library identifies conserved reprogrammable liver motif on AAV capsid Nov 15, 2022 | Magazine: Cell Reports Medicine
- Choice of vector and surgical approach enables efficient cochlear gene transfer in nonhuman primate Mar 15, 2022 | Magazine: Nature Communications
- Pharmacological Induction of a Progenitor State for the Efficient Expansion of Primary Human Hepatocytes [SP] May 15, 2018 | Magazine: Hepatology
- Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression Jun 30, 2015 | Magazine: Gene Therapy