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.

Dra. Carmen Unzu

GROUP LEADER

   +34 948 194 700
   cunzu@unav.es
   Research profile
   Linkedin

Objectives of our research

Identification 

of AAV capsid and genome elements that affect their therapeutic potency. 

Design 

of innovative strategies to reduce AAV immunogenicity.

Preclinical development

of precision gene therapies for congenital hearing loss.

TARGET INDICATION

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.

Scientific activity of the Gene therapy
for congenital hearing loss & AAV engineering

DNA and RNA Medicine
Active

HEPATOX-AAV

Cima Principal Investigator: Carmen Unzu
Funder: Ministerio de Ciencia, Innovación y Universidades