Dr. Alex Garanto conducted his PhD project in the field of Genetics after finishing his studies in Biology at the University of Barcelona. During his PhD, he focused on elucidating the function of CERKL, an inherited retinal dystrophy gene, as well as the characterization of a knockout mouse model for this gene. After his PhD defense, he studied the contribution of Ubiquitin and Sumo signalling in the determination of photoreceptor cell fate. In October 2012, Dr. Garanto started as a postdoc in the Blindness Genetic Therapy group at the Department of Human Genetics.

His main research consisted in developing new therapeutic approaches for inherited retinal disorders. Together with Dr. Rob Collin, they investigated a promising antisense oligonucleotide (AON)-based therapy for one of the most recurrent mutations in CEP290 gene, causing Leber congenital amaurosis. A phase 1/2 clinical trial using this strategy has started. Given the positive results obtained for CEP290, they are expanding splicing modulation therapies for other subtypes of inherited retinal dystrophies.

Dr. Garanto is currently in a tenure track at the Department of Human Genetics and he is starting his own research group on therapeutic DNA and RNA editing. His research focuses on the development of novel strategies to correct the effect of mutations in the DNA either at DNA or RNA level, and novel suitable model systems to assess therapeutic interventions.