International Day for Women in Science

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February 11, 2024
Illuminating the Genetic Mysteries of Inherited Retinal Diseases

Hello! I am Dr Lisa Roberts, and I’m a scientist navigating the fascinating world of genetics. My work revolves around deciphering the genetic code that contributes to various forms of blindness. My mission to identify the genes responsible for inherited retinal diseases is as challenging as it is rewarding. My inspiration is drawn from witnessing the resilience and strength of individuals navigating a sightless world.

As a woman in Science, I am part of a growing force of female scientists making significant contributions to the field. We bring unique perspectives and strengths to our work, driving innovation and discovery. We are questioning (and changing) academic culture along the way, hopefully clearing the pathway for brave, bold scientists of the future. I personally find it hugely rewarding to be in a position where I can impact the next generation of scientists, observing their growth as they develop incredible skills and embrace their curiosity. 

The Science Behind the Sight

Inherited retinal diseases are a group of rare eye conditions affecting the retina. Did you know the retina is actually considered an extension of the brain? These diseases, such as Retinitis Pigmentosa and Stargardt disease, can lead to severe vision loss and even blindness in families, because they have a genetic basis. The complexity of these conditions is immense, with over 270 known genes (and thousands of different genetic mutations) associated with inherited retinal diseases.

The Journey of Discovery

My work is like a detective’s investigation: sifting through the three billion letters of DNA code, to find the “typos” (genetic variants) behind these eye conditions. It’s a meticulous process, requiring precision, patience, and a deep understanding of genetic principles and the intricacies of the human genome. I collaborate with a diverse team of scientists, researchers, genetic counsellors, and clinicians in the pursuit of knowledge, each one bringing a unique perspective and skillset to the table. Together, we strive to identify the genetic mutations and mechanisms of blindness, contributing to a growing body of understanding, and publishing groundbreaking research papers.

The joy of discovery is exceptional, but the journey of a genetic scientist also demands resilience and adaptability – we are faced with challenging laboratory work and data analysis, ethical dilemmas to consider, and funding constraints. It’s important to remember all hurdles represent opportunities to learn and grow. 

The Impact of Our Work

Beyond the laboratory, the implications of our research are profound. Meeting these families is a privilege that has been one of the most rewarding aspects of my career. I am regularly reminded that each gene discovered, each mechanism understood, brings us a step closer to a future where inherited retinal diseases are no longer a life sentence of vision loss. By identifying the genes responsible for these conditions, we open the door to for targeted gene therapies and personalised medicine.

I am acutely aware of the importance of community engagement and community empowerment, so I enthusiastically advocate for equitable access to gene-based therapies in Africa. Education, awareness, and increased accessibility to genomic medicine are key pillars in the mission to ensure that our research translates into real-world impact.

The Future is Bright

Over the past 25 years, I’ve witnessed a remarkable transformation of the field of genetics. Technological advancements have allowed us to explore the human genome to a scale we had not thought possible, catapulting our understanding of DNA; the code of life. The collective achievements of the scientific community specifically dedicated to understanding and solving inherited retinal disorders are truly incredible. I cannot even begin to predict where we’ll be in a few short years! But, as we light the way for aspiring scientists, I am certain that the path ahead is filled with promise.   

The photo shows some of the Women in the Retinal research team, in the Division of Human Genetics, UCT.

The photo shows some of the Women in the Retinal research team, in the Division of Human Genetics, UCT (Some of the team members were unfortunately unable to join for the photograph).

From Left to Right:
Nicole Midgley, Dr Lisa Roberts, Sister Gameda Benefeld, Indy Van Rensburg and Lucia Motsatsi Makoala

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