Wissinger Lab

Molecular Genetics Laboratory

Home » Labs » Wissinger Lab » Members » Arturo Flores Tufino

Arturo Flores Tufino

Surname Flores Tufino
First name Arturo
Position and Title PhD student
Project CRISPR/Cas gene editing for excision and rescue of (deep-) intronic mutations in IRD-related genes

Business address

Molecular Genetics Laboratory
Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,

Phone: +49 (0)7071 29-80706

E-mail: arturo.flores-tufino[at]med.uni-tuebingen.de

Research background and scientific interests

My previous experience has enabled me to deepen my knowledge of biomedical research and molecular biology. During my BSc, I studied novel genetic variants of pharmaco-genes for personalized dosing in Mexican patients. Encouraged by my interest in research, I undertook my MSc degree at Wageningen University & Research (The Netherlands). For my thesis, I studied genomic chromatin remodeling and transcriptional regulation which provided me with valuable proficiency in bioinformatics. I continued then as a research assistant at the Josep Carreras Leukaemia Research Institute in Barcelona where I expanded my insights on genome engineering, gaining hands-on experience with the CRISPR/Cas9 system.

My current scientific interest is focused on the development of genome editing strategies with translational potential for Inherited Retinal Dystrophies (IRDs).

Project descriptions

Stargardt disease (STGD1) is an autosomal recessive genetic disorder caused by biallelic mutations in the ABCA4 gene. The disease typically leads to vision loss during childhood or adolescence, being the most common form of juvenile macular dystrophy. The mutation spectrum of ABCA4 is highly heterogeneous, over 1,700 single mutations have been described to date, identifying larger deletions, insertions, and deep-intronic variants (DIVs). The latest, lead to defects in mRNA splicing, either by pseudo-exon formation or exon skipping. Although several clinical trials are ongoing for STGD1, to date, no effective treatment is available for patients.

The possibility of permanently correcting genetic defects is a promising field of gene therapy. This can be allowed by CRISPR/Cas technologies, able to achieve edition at the genomic level to cure human inherited disorders.

My Ph.D. project aims to develop novel strategies using CRISPR/Cas9 to rescue splicing events in pathogenic DIVs to restore normal ABCA4 mRNA maturation. This knowledge will lead to promising strategies in therapy for patients suffering from Stargardt disease.