Alex Garanto

About

I started my PhD project in the field of Genetics after finishing my studies in Biology at the University of Barcelona. It consisted in elucidating the function of CERKL, an inherited retinal dystrophy gene, as well as the characterization of a knockout mouse model for this gene. After my PhD, I studied the contribution of Ubiquitin and Sumo signalling in the determination of photoreceptor cell fate. In October 2012, I started as a postdoc in the Blindness Genetic Therapy group at the Department of Human Genetics of the Radboud University Medical Center. During this time I contributed to the development of novel therapeutic interventions for inherited retinal disorders and neurometabolic diseases at the Departments of Pediatrics and Human Genetics of the Radboudumc.

Employment

• Radboudumc Associate Professor / Research Group Leader
  2023 - Present
• Radboudumc Assistant Professor & Junior Principal Investigator
  2021 - 2023
• Radboudumc Junior Principal Investigator
  2020 - 2023
• Radboudumc Assistant Professor
  2017 - 2023
• Radboudumc Post-doc
  2012 - 2017
• Universitat de Barcelona Post-doc
  2011 - 2012
• Universitat de Barcelona PhD candidate
  2006 - 2011

Education

Education history is unavailable.

Projects & Funding

• Module 4: In vivo delivery and efficacy testing of AONs in mice Foundation Fighting Blindness
  2017 - 2022
• Expanding splice modulation therapies for inherited retinal dystrophies Uitzicht
  2016 - 2019
• A novel approach to correct mutant transcripts in inherited retinal dystrophies ZonMw
  2016 - 2018

Publications (78)

• Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyase
  Glycobiology 2026 DOI: 10.1093/glycob/cwag038
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• Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health
  Cellular and Molecular Life Sciences 2026 DOI: 10.1007/s00018-025-06025-9
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• Photostimulation Improves Maturation of Human Photoreceptors
  2025 DOI: 10.1101/2025.07.17.665282
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• Targeting AASS improves neurotoxicity and mitochondrial function in astrocyte models for pyridoxine dependent epilepsy
  2025 DOI: 10.1101/2025.05.07.652392
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• Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease
  Communications Medicine 2025 DOI: 10.1038/s43856-024-00712-7
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• De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
  2025 DOI: 10.1101/2025.01.06.24317169
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• Retina-on-chip: engineering functional in vitro models of the human retina using organ-on-chip technology
  Lab on a Chip 2025 DOI: 10.1039/D4LC00823E
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• Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4
  Molecular Therapy - Nucleic Acids 2024 DOI: 10.1016/j.omtn.2024.102345
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• Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retina
  Nucleic Acids Research 2024 DOI: 10.1093/nar/gkae686
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• Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH
  Stem Cell Research 2024 DOI: 10.1016/j.scr.2024.103481
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• Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis
  Stem Cell Research 2024 DOI: 10.1016/j.scr.2024.103480
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• Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4
  Nucleic Acid Therapeutics 2024 DOI: 10.1089/nat.2024.0008
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• Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease
  Nucleic Acid Therapeutics 2024 DOI: 10.1089/nat.2023.0076
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• Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development
  2024 DOI: 10.1101/2024.03.27.586938
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• Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
  Cells 2024 DOI: 10.3390/cells13070601
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• Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
  Molecular Therapy 2024 DOI: 10.1016/j.ymthe.2024.01.019
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• Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
  Stem Cell Research 2023 DOI: 10.1016/j.scr.2023.103252
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• Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9
  Stem Cell Research 2023 DOI: 10.1016/j.scr.2023.103173
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• Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9
  Stem Cell Research 2023 DOI: 10.1016/j.scr.2023.103069
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• Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme.
  JCI insight 2023 DOI: 10.1172/jci.insight.169162
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