2021 Mary Ann Liebert, Inc. publishers Young Investigator Award
Alex Garanto, PhD
Radboud University Medical Center (Radboudumc)
Dr. Alejandro (Alex) Garanto is currently an Assistant Professor at the Departments of Pediatrics and Human Genetics of the Radboudumc in Nijmegen (the Netherlands). He obtained his PhD from the University of Barcelona in 2011 under the supervision of Prof. Gonzàlez-Duarte and Prof. Marfany. After a short postdoc with Prof. Marfany at the University of Barcelona, Alex moved to the Netherlands to start working with Prof. Collin on the design and characterization of antisense oligonucleotides (ASOs) as a potential approach to treat inherited retinal diseases. The first target was an intronic mutation in CEP290, and part of this preclinical work led to a clinical trial, which is currently in phase 3. Furthermore, he and his colleagues expanded the use of ASOs to correct splicing defects in other retinal disease-associated genes, such as CHM and ABCA4. Especially for ABCA4, more than 25 splicing defects caused by (deep-)intronic variants have been successfully corrected using ASOs and currently, some of these ASOs are being further characterized for clinical application. Since 2020, he is recognized as a group leader at the Radboudumc and his research focuses on the development of molecular therapies, mainly using RNA-based approaches, for inherited neurometabolic diseases and inherited retinal diseases.