Marina was born in Granada, Spain and obtained her Bachelor’s degree in Biochemistry at the University of Granada. During her degree, she participated in an Erasmus+ Exchange programme at the University of Durham, UK. Marina continued her studies and did a Master’s Degree in Health Biotechnology at the University of Pablo de Olavide, Sevilla. Her Master’s Thesis was focused on stem cell and gene therapy in retinal diseases, where she worked with iPSCs and CRISPR/Cas9 technique. During this time, she gained lot of interest in retinal diseases leading her to apply for another Erasmus+ Exchange programme in the Retinal Stem Cell Research Group of Newcastle University. After her rewarding internship, she applied for a phD as part of the SCilS programme, where she has investigated the impact of alternative splicing of ciliary genes on the development and maturation of human photoreceptors.

Marina defended her PhD Thesis “Understanding the impact of PROM1 alternative splicing on the development and maturation of human photoreceptors” on 11st of July 2024. Her research work was conducted within the Retinal Stem Cell Research Group of Newcastle University. She obtained the title of PhD in Biosciences issued from Newcastle University.

What does Marina say about our program?

I am profoundly grateful to the PhD training program and the SCilS Network for offering me such a wonderful experience. The PhD program counts with several Research Training and Complementary Skills courses which provide me wide range of methods and techniques in the field. Additionally, the secondments allowed me to collaborate across various laboratories, enriching my experience by fostering connections with different collaborators and accelerating the progress of the project. I also had the privilege of meeting 13 incredible ESRs who have been by my side throughout these three years, making this journey enjoyable and unforgettable. I believe many more memories are yet to come. I strongly encourage anyone considering the program to apply, as it has been a meaningful and rewarding aspect of my professional journey.

Abstract
Alternative splicing is a pre-mRNA processing step regulating the selection of specific exons/introns to produce different transcripts from one genomic locus. Retinal tissue has one of the highest levels of alternative splicing, and mutations in splicing factors and dysregulation of splicing is associated with retinal disease. A recent study in mouse has shown that retinal development is characterised by dynamic changes in splicing, with differential splicing events occurring more frequently during early development. In particular the photoreceptors are characterised by a specific splicing program that displays a switch like pattern with high exon inclusion levels in photoreceptors and almost complete exclusion outside the retina. Previous studies have shown that PROM1 displays increased exon 4 inclusion (54%) and exon 24 skipping (44.4%) during 12th-18th week of human development, a developmental window characterised by photoreceptor differentiation and maturation. The aim of this project is to investigate the dynamics of PROM1 alternatively spliced isoforms generation and their impact on photoreceptor differentiation and maturation. Retinal organoids generated from human pluripotent stem cells and morpholinos, which block PROM1 alternative splicing, will be used to achieve this goal.

We want you to understand!

Layman abstract

Understanding changes in ciliary genes on the development and maturation of human photoreceptors

Photoreceptors are cells in the eye which respond to the light. Lot of genes are involved in the growth, structure, maintenance and function of photoreceptors and the hair-like structures on them (called cilia). Disruption of these genes can affect vision or colour blindness. The aim of the project is to investigate the impact of these changes on the development of photoreceptors.

You can also watch a 55-sec video which Marina created to describe her research here: YOUTUBE or with others on our website here.