Our aim is to understand retinal function and the molecular mechanisms driving retinopathies, and to use this knowledge to uncover potential therapeutic targets.
Vision is the most important sense in humans because the majority of information from our environment is obtained through sight. Because of the importance of vision to humans, its loss results in some very debilitating sensorial disorders. Approximately 25% of vision loss is due to retinal dystrophies—progressive disorders that eventually end in blindness and which currently have no cure.
The retina is a light-sensitive tissue that converts light into electrical signals which are then sent to the brain for further processing. Three main cell types make up the neurosensory retina—photoreceptors, bipolar cells, and ganglion cells—and their activity is fine-tuned by modulatory neurons: horizontal and amacrine cells.
The aim of our laboratory is to understand retinal function, both in homeostasis and disease, by focusing our efforts on achieving the following objectives:
- Understanding the molecular mechanism underlying hereditary retinal dystrophies and correlating the phenotype of these patients with animal models with homologous genetic deficiencies.
- Developing therapeutic strategies based on the use of human pluripotent stem cells.
- Deciphering the molecular mechanisms of retinogenesis, especially photoreceptor specification, by studying the directed differentiation of pluripotent stem cells. Understanding the development of these highly specialized neurons will likely contribute to the identification of therapeutic targets which could be used to design efficient treatments for diseases such as retinal dystrophies.
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Our scientific contributions
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.
Lukovic D, Artero Castro A, Kaya KD, Munezero D, Gieser L, Davó-Martínez C, Corton M, Cuenca N, Swaroop A, Ramamurthy V, Ayuso C and Erceg S
Scientific Reports, 2020 Mar,  DOI:  10.1038/s41598-020-62047-2,  Vol. 10,  pag. 5426-5426
Transcriptome-based molecular staging of human stem cell-derived retinal organoids uncovers accelerated photoreceptor differentiation by 9-cis retinal
K. KAYA, H. CHEN, M. BROOKS, R. KELLEY, H. SHIMADA, K. NAGASHIMA, N. DE VAL, C. DRINNAN, L. GIESER, K. KRUCZEK, S. ERCEG, T. LI, D. LUKOVIC, Y. ADLAKHA, E. WELBY and A. SWAROOP
MOLECULAR VISION, 2019 Nov,  DOI:  ,  Vol. 25,  pag. 663-678
Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling
Bolinches-Amorós A, León M, Del Buey Furió V, Marfany G, Gonzàlez-Duarte R, Erceg S and Lukovic D
Stem Cell Research, 2019 Jul,  DOI:  10.1016/j.scr.2019.101455,  Vol. 38,  pag. 101455-101455
Generation of a human iPSC line by mRNA reprogramming
A. CASTRO, M. LEON, V. FURIO, S. ERCEG and D. LUKOVIC
Stem Cell Research, 2018 Apr,  DOI:  10.1016/j.scr.2018.02.011,  Vol. 28,  pag. 157-160
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
D. LUKOVIC, A. CASTRO, A. DELGADO, M. BERNAL, N. PELAEZ, A. LLORET, R. ESPEJO, K. KAMENAROVA, L. SANCHEZ, N. CUENCA, M. CORTON, A. FERNANDEZ, A. SORKIO, H. SKOTTMAN, C. AYUSO, S. ERCEG VUKICEVIC and S. BHATTACHARYA
Scientific Reports, 2015 Aug,  DOI:  10.1038/srep12910,  Vol. 5,  pag.