Our Research

The labs focus is to provide clinically translatable impact using iPSC-derived ophthalmic organoid-based approaches for the understanding and treatment of retinal degenerative diseases. The PrimeSight team is currently developing gene-specific and gene-agnostic therapeutics for the amelioration of the phenotypic, histopathological, and molecular changes in several inherited retinal disease iPSC-derived retinal organoid models. Further, they are establishing projects on autosomal dominant optic atrophy and genetic glaucoma.

Publications

  1. Prime Editing for the Investigation of Aberrant Splicing Defect Associated with a Pathogenic PRPH2 Variant. Costa BLD, Helms KM, Theodore K, Tsai Y-T, Caruso SM, Liu S, Carvalho JRL, Nolan ND, Tahir S, Makinson CD, Tsang SH, Quinn PMJ. Molecular Therapy Nucleic Acids. 2025. In Press
  2. Eyes Shut Homolog (EYS): Connecting Molecule to Disease. Marques JP, Sousa IS, Patrício D, Simões BF, Chukwunalu O, Zeitz C, Audo I, Collin RWJ, Quinn PMJ, Ambrósio AF, Alves CH. Progress in Retinal and Eye Research. 2025. In Press
  3. Phenotypic spectrum and theoretical prime editing analysis of WDR19-associated retinal degeneration. Pincay J, Costa BLD, Quinn PMJ, Rodriguez M, Zhou A, Kong MD, Sparrow JR, Tsang SH. Doc Ophthalmol. 2025. In Press
  4. Ablating VHL in Rod Photoreceptors Modulates RPE Glycolysis and Improves Preclinical Model of Retinitis Pigmentosa. Caruso SM, Cui X, Robbings BM, Heapes N, Demikrol A, Costa BLD, Hass DT, Quinn PMJ, Du J, Hurley JB, Tsang SH. J Clin Invest. 2025. In Press
  5. Genetic Landscape of Non-syndromic Retinitis Pigmentosa in Portugal. Chukwunalu O, Ambrósio AF, Quinn PMJ, Marques JP, Alves CH. Adv Exp Med Biol. 2025. In Press
  6. Prime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation. Costa BLD, Caruso SM, Tsai Y-T, Castileljos D, Sylla MM, Tsang SH, Quinn PMJ. Adv Exp Med Biol. 2025. In Press
  7. Megabase deletion of the human EYS locus using CRISPR/Cas9. Costa BLD, Knudsen AS, Alves CH, Tsang SH, Quinn PMJ. Adv Exp Med Biol. 2025. In Press
  8. Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 mutation. Costa BLD, Pincay J, Brodie SE, Tsang SH, Quinn PMJ. Adv Exp Med Biol. 2025. In Press
  9. Generation of Retinal Organoids Using Human-Induced Pluripotent Stem Cells. Theodore K, Imventarza JA, Tahir S, Costa BLD*, Quinn PMJ*. Methods Mol Biol. 2025. In Press. *Co-last author
  10. Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy. Costa BLD, Quinn PMJ, Wu WH, Liu S, Nolan ND, Demirkol A, Tsai YT, Caruso SM, Cabral T, Wang NK, Tsang SH. Cell Biosci. 2024 May 21;14(1):64. doi: 10.1186/s13578-024-01243-3. PMID: 38773556
  11. Human CRB1 and CRB2 form homo-and heteromeric protein complexes in the retina. Stehle IF, Imventarza JA, Woerz F, Hoffmann F, Boldt K, Beyer T, Quinn PMJ, Ueffing M. Life Sci Alliance. 2024 Apr 3;7(6):e202302440. doi: 10.26508/lsa.202302440. Print 2024 Jun. PMID: 38570189
  12. Characterization and AAV-mediated CRB gene augmentation in human derived CRB1KO and CRB1KOCRB2+/- retinal organoids. Boon N, Lu X, Andriessen CA, Orlovà M, Quinn PMJ, Boon CJF, Wijnholds J.  Mol Ther Methods Clin Dev. 2023 Oct 10:31:101128. doi: 10.1016/j.omtm.2023.101128. eCollection 2023 Dec 14. PMID: 37886604
  13. A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. Sylla MM, Kolesnikova M, Costa BLD, Maumenee IH, Tsang SH, Quinn PMJ. Doc Ophthalmol. 2023 Dec;147(3):217-224. doi: 10.1007/s10633-023-09951-w. PMID: 37804373
  14. CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids. Buck TM, Quinn PMJ, Pellissier LP, Mulder AA, Jongejan A, Lu X, Boon N, Koot D, Almushattat H, Arendzen CH, Vos RM, Bradely EJ, Freund C, Mikkers HMM, Boon CJF, Moerland PD, Baas F, Koster AJ, Neefjes J, Berlin I, Jost CR, Wijnholds J. Stem Cell Reports. 2023 Sep 12;18(9):1793-1810. doi: 10.1016/j.stemcr.2023.07.001. Epub 2023 Aug 3. PMID: 37541258
  15. Generation of an Avian Myeloblastosis Virus (AMV) Reverse Transcriptase Prime Editor. Tsai YT, Costa BLD*, Caruso SM*, Nolan ND*, Levi SR, Tsang SH, Quinn PMJ. Adv Exp Med Biol. 2023:1415:109-114. doi: 10.1007/978-3-031-27681-1_17. PMID: 37440022 *Contributed Equally
  16. Prime Editing Strategy to Install the PRPH2 c.828+1G>A mutation. Caruso SM*, Tsai YT*, Costa BLD*, Kolesnikova M, Jenny LA, Tsang SH, Quinn PMJ. Adv Exp Med Biol. 2023:1415:97-102. doi: 10.1007/978-3-031-27681-1_15. PMID: 37440020 *Co-first author
  17. Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T mutation. Costa BLD, Yao Li, Levi SR, Tsang SH, Quinn PMJ. Adv Exp Med Biol. 2023:1415:571-576. doi: 10.1007/978-3-031-27681-1_83. PMID: 37440088
  18. Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing. Costa BLD, Jenny LA, Maumenee IH, Tsang SH, Quinn PMJ. Adv Exp Med Biol. 2023:1415:103-107. doi: 10.1007/978-3-031-27681-1_16. PMID: 37440021
  19. TRAP1 is expressed in human retinal pigment epithelial cells and is required to maintain their energetic status. Rego IR, Silvério D, Eufrásio MI, Pinhanços SS, Costa BLD, Teixeira J, Fernandes H, Kong Y, Li Y, Tsang SH, Oliveira PJ, Fernandes R, Quinn PMJ, Santos PF, Ambrósio AF, Alves CH. Antioxidants (Basel). 2023 Feb 4;12(2):381. doi: 10.3390/antiox12020381. PMID: 36829938
  20. Clinical and therapeutic evaluation of the ten most prevalent CRB1 mutations. Costa BLD, Kolesnikova M, Levi SR, Cabral T, Tsang SH, Maumenee IH, Quinn PMJ. Biomedicines. 2023 Feb; 11(2): 385. PMID: 36830922
  21. HIF2α activation and mitochondrial deficit due to iron chelation cause retinal atrophy. Kong Y*, Liu PK*, Li Y*, Nolan ND, Quinn PMJ, Hsu CW, Jenny LA, Zhao J, Cui X, Chang YJ, Wert KJ, Sparrow JR, Wang NK, Tsang SH. EMBO Mol Med. 2023 Jan 16;e16525. PMID: 36645044 *Co-first author
  22. Prime Editing for the Installation and Correction of Mutations Causing Inherited Retinal Disease: A Brief Methodology. Tsai YT*, Costa BLD*, Nolan ND*, Caruso SM*, Jenny LA, Levi SR, Tsang SH, Quinn PMJ. Methods Mol Biol. 2023;2560:313-331. doi: 10.1007/978-1-0716-2651-1_29. *Co-first author
  23. Generation of Human iPSC-Derived Retinal Organoids for Assessment of AAV-Mediated Gene Delivery. Tso A, Costa BLD, Fehnel A, Levi SR, Jenny LA, Ragi SD, Li Y, Quinn PMJ. Methods Mol Biol. 2023;2560:287-302. doi: 10.1007/978-1-0716-2651-1_27. PMID: 36481905
  24. Culture of Human Retinal Explants for Ex Vivo Assessment of AAV Gene Delivery. Wu WH, Tso A, Breazzano MP, Jenny LA, Levi SR, Tsang SH, Quinn PMJ. Methods Mol Biol. 2023;2560:303-311. doi: 10.1007/978-1-0716-2651-1_28. PMID: 36481906
  25. Oxidative Stress, Neuroinflammation and Neurodegeneration: The Chicken, the Egg and the Dinosaur. Quinn PMJ, Ambrósio AF, Alves CH. Antioxidants (Basel). 2022 Aug 11;11(8):1554. PMID: 36009273
  26. CRISPR/Cas therapeutic strategies for autosomal dominant disorders. Caruso SM, Quinn PMJ, Costa BLD, Tsang SH. J Clin Invest. 2022 May 2;132(9):e158287. PMID: 35499084
  27. CRISPR genome surgery in a novel humanized model for autosomal dominant retinitis pigmentosa. Wu WH*, Tsai YT*, Huang IW, Cheng CH, Hsu CW, Cui X, Ryu J, Quinn PMJ, Caruso SM, Lin CS, Tsang SH. Mol Ther. 2022 Apr 6;30(4):1407-1420. PMID: 35150888 *Co-first author
  28. Role of Oxidative Stress in Retinal Ganglion Cells degenerations. Kang EYC, Liu PK, Wen YT, Quinn PMJ, Levi SR, Wang NK, Tsai RK. Antioxidants. 2021 Dec 5;10(12):1948. PMID: 34943051
  29. Phase transition specified by a binary code patterns the vertebrate eye cup. Balasubramanian R*, Min X*, Quinn PMJ, Lo Giudice Q, Tao C, Polanco K, Makrides N, Peregrin J, Bouaziz M, Mao Y, Wang Q, Costa BLD, Buenaventura D, Fen W, Ma L, Tsang SH, Fabre PJ., Zhang X. Sci Adv. 2021. Nov 12;7(46):eabj9846. PMID: 34757798 *Co-first author
  30. Prime Editing for Inherited Retinal Diseases. Costa BLD, Levi SR, Eulau E, Tsai YT, Quinn PMJ. Front Genome Ed.  2021 Nov 25;3:775330. PMID: 34901928
  31. Reversible Mouse Models of Achromatopsia in addressing temporal “point of no return” in gene-therapy. Wang NK, Liu PK, Kong Y, Levi SR, Huang WC, Hsu CW, Wang HH, Chen N, Tseng YJ, Quinn PMJ, Ta MH, Lin CS, Tsang SH. Int J Mol Sci. 2021. Aug; 22(15): 8069. PMID:34360834
  32. The role of small molecules and their effect on the molecular mechanisms of early retinal organoid development. Wagstaff PE, Heredero Berzal A, Boon CJF, Quinn PMJ, ten Asbroek ALMA, Bergen AA. Int J Mol Sci. 2021. Jul; 22(13): 7081. PMID:34209272
  33. Overcoming translational barriers in modeling macular degenerations. Nolan ND, Quinn PMJ, Tsang SH. Cell Stem Cell. 2021 May 6;28(5):781-783. doi: 10.1016/j.stem. 2021.04.015. PMID: 33961756
  34. Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration. Tsai Y*, Li Y*, Ryu J, Su P, Cheng C, Wu W, Li Y, Quinn PMJ, Leong KW, Tsang SH. Am. J. Hum. Genet., 1–16. doi:10.1016/j.ajhg.2021.04.006. *Co-first author
  35. Defining phenotype, tropism, and retinal gene therapy using adeno-associated viral vectors (AAV) in new-born Brown Norway rats with a spontaneous mutation in Crb1. Boon N, Alves CH, Mulder AA, Andriessen CA, Buck TM, Quinn PMJ, Vos RM, Koster AJ; Jost CR. Wijnholds J. Int J Mol Sci. 2021 Mar 30;22(7):3563. doi: 10.3390/ijms22073563. PMID: 33808129
  36. Organoids and organ chips in ophthalmology. Manafi N, Shokri F, Achberger K, Hirayama H, Mohammadi MH, Noorizadeh F, Hong J, Liebau S, Tsuji T, Quinn PMJ*, Mashaghi A*. Ocul Surf. 2020 Nov 18;19:1-15. doi: 10.1016/j.jtos.2020.11.004. PMID: 33220469 *Co-last author
  37. PINK1/PARKIN signalling in neurodegeneration and neuroinflammation. Quinn PMJ, Moreira PI, Ambrósio AF, Alves CH. Acta Neuropathol Commun. 2020 Nov 9;8(1):189. doi: 10.1186/s40478-020-01062-w. PMID: 33168089
  38. Precision metabolome reprogramming for imprecision therapeutics in retinitis pigmentosa. Caruso S, Ryu J, Quinn PMJ, Tsang SH. J Clin Invest. 2020 Jul 13. doi: 10.1172/JCI139239. PMID: 32657778
  39. Retinogenesis of the Human Fetal Retina: An Apical Polarity Perspective. Quinn PMJ and Wijnholds J. Genes. 2019 Nov 29;10(12):987. doi: 10.3390/genes10120987. PMID: 31795518
  40. Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5. Quinn PM*, Buck TM*, Mulder AA, Ohonin C, Alves CH, Vos RM, Bialecka M, van Herwaarden T, van Dijk EHC, Talib M, Freund C, Mikkers HMM, Hoeben RC, Goumans MJ, Boon CJF, Koster AJ, Chuva de Sousa Lopes SM, Jost CR, Wijnholds J. Stem Cell Reports. 2019 Mar 22. pii: S2213-6711(19)30087-6. doi: 10.1016/j.stemcr.2019.03.002. PMID: 30956116 *Co-first author
  41. Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. Quinn PM, Mulder AA, Alves CH, Desrosiers M, de Vries SI, Klooster J, Dalkara D, Koster AJ, Jost CR, Wijnholds J. Hum Mol Genet. 2019 Jan 1;28(1):105-123. doi: 10.1093/hmg/ddy337. PMID: 30239717
  42. Transplantation of NTPDase2-positive Sorted Müller Glial Cells into the Mouse Retina. Hoek RM*, Quinn PM*, Hooibrink B, Wijnholds J. J Neurosci Neurosurg. 2018 Nov;1(5):122. doi: 10.31021/jnn.20181122. *Co-first author
  43. CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function. Quinn PM, Alves CH, Klooster J, Wijnholds J. Hum Mol Genet. 2018 Sep 15;27(18):3137-3153. doi: 10.1093/hmg/ddy194. PMID: 29893966
  44. Production of iPS-Derived Human Retinal Organoids for Use in Transgene Expression Assays. Quinn PM, Buck TM, Ohonin C, Mikkers HMM, Wijnholds J. Methods Mol Biol. 2018;1715:261-273. doi: 10.1007/978-1-4939-7522-8_19. PMID: 29188520
  45. NTPDase2 as a Surface Marker to Isolate Flow Cytometrically a Müller Glial Cell Enriched Population from Dissociated Neural Retinae. Hoek RM*, Quinn PM*, Alves CH, Hooibrink B, Wijnholds J. J Neurosci Neurosurg. 2018 Aug;1(4):117. doi: 0.31021/jnn.20181117. *Co-first author
  46. The CRB1 Complex: Following the Trail of Crumbs to a Feasible Gene Therapy Strategy. Quinn PM, Pellissier LP, Wijnholds J.Front Neurosci. 2017 Apr 5;11:175. doi: 10.3389/fnins.2017.00175. eCollection 2017. Review. PMID: 28424578 
  47. Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models. Pellissier LP, Quinn PM, Alves CH, Vos RM, Klooster J, Flannery JG, Heimel JA, Wijnholds J. Hum Mol Genet. 2015 Jun1;24(11):3104-18. doi: 10.1093/hmg/ddv062. Epub 2015 Feb 20. PMID: 25701872
  48. Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis. Pellissier LP, Alves CH, Quinn PM, Vos RM, Tanimoto N, Lundvig DM, Dudok JJ, Hooibrink B, Richard F, Beck SC, Huber G, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J. PLoS Genet. 2013;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5. PMID: 24339791

Patents

  1. Compositions, systems, and methods for prime editing. WO2024026415A1. Quinn PMJ, Tsai Y-T, Costa BLD, Tsang SH.
  2. Methods and systems for correcting mutations in prph2. WO2023220732A1. Tsai Y-T, Caruso SM, Costa BLD, Tsang SH, Quinn PMJ.
  3. Methods and systems for modifying the crumbs homologue-1 (crb1) gene. WO2023049931A1. Quinn PMJ, Costa BLD, Tsang SH, Liu DR.
  4. Vectors and compositions for gene augmentation of crumbs complex homologue 1 (crb1) mutations. WO2023245131A1. Quinn PMJ, Tsang SH, Tsai Y-T.

Books

  1. Prime Editing: Methods and Protocols. Quinn PMJ, Costa BLD. Method Mol Biol. 2025.
  2. Retinitis Pigmentosa. Tsang SH, Quinn PMJ. Methods Mol Biol. 2023.

Preprints

  1. Phase transition specified by a binary code patterns the vertebrate eye cup. Balasubramanian R*, Min X*, Quinn PMJ, Lo Giudice Q, Tao C, Polanco K, Makrides N, Peregrin J, Bouaziz M, Mao Y, Wang Q, Costa BLD, Buenaventura D, Fen W, Ma L, Tsang SH, Fabre PJ., Zhang X. BioRixv . 2021. Published in Sci Adv, PMID: 34757798 *Co-first author

Thesis

The Retinal Crumbs Complex: From Animal Models and Retinal Organoids to Therapy. Quinn PMJ. Leiden University. 2019 May 15. (PhD thesis)