dr. Alex Garanto Iglesias PhD

About Alex Garanto Iglesias

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 expanded splicing modulation therapies for other subtypes of inherited retinal dystrophies. Currently, Dr. Garanto is leading the "Molecular therapies for neurometabolic and sensory diseases" group between the Departments of Pediatrics and Human Genetics. His research focuses on the development of moleculart herapies for a variety of diseases affecting the eye, the brain or muscle. In addition, his group develops personalized models based on iPSC technology to accelerate treatment development and find novel therapeutic targets by combining functional, moleculaer and biochemical readouts.

Personal prizes & awards

• 2014: EMBO Short-term fellowship
• 2015: Uitzicht - Expanding splice modulation therapies for inherited retinal dystrophies (2015-2019)
• 2016: ZonMw-Off Road - A novel approach to correct mutant transcripts in inherited retinal dystrophies (2016-2018)
• 2017: Foundation Fighting Blindness - Assessment of therapeutic molecules in vivo (principal investigator in module 4 of a Project Program Award (2017-2022)
• 2018: Uitzicht - Splicing modulation therapy for recurrent ABCA4 mutations underlying Stargardt disease (2018-2021)