Varun Ranganathan, MCOptom

Clinical Optometrist

An OCULAR Interface Exclusive

Synopsis:

As the fields of medicine and technology continue to converge, the future of eye care is poised for revolutionary advancements. In this blog, we explore the transformative potential of gene therapy and artificial intelligence (AI). Gene therapy offers groundbreaking solutions for inherited retinal diseases, while AI revolutionises early detection, diagnosis, and personalised treatment plans. Together, these innovations are building a healthier and safer world, one where sight restoration and prevention become more precise and accessible.

Keywords: Gene therapy, Drug trials, Inherited retinal diseases, Artificial Intelligence and genetic engineering.

Introduction

Genetic engineering and gene therapy for ocular conditions has been studied intensely for the past decade. It is a ground-breaking new therapeutic solution offering life-changing improvement in eyesight for people with inherited retinal diseases. Inherited retinal conditions include Retinitis Pigmentosa (RP) and Leber’s Congenital Amaurosis (LCA). In both conditions vision continues to deteriorate well after its diagnosis and patients usually depend on low vision aids for living. A small sample of patients with these conditions have received gene therapy treatment and have reported a several fold increase in their vision.¹

How Gene Therapy Works

Gene therapy, particularly in ophthalmology, can be put to its best use because the human eye has some unique characteristics making it ideal. The eye is small, self-contained and has a natural evolutionary adaptation that protects it from the body’s immune response. Due to the eye’s thick layers, systemic contamination is unlikely.

Gene therapy is defined as the introduction or removal of genetic material to achieve a therapeutic benefit.²There are three main types:

• Gene Addition: It involves introducing genetic material into a cell to compensate for a missing or nonfunctional gene. ³
• Gene Editing: It involves altering an endogenous DNA by inactivating a gene or by correcting its function. ⁴
• RNA Modification: It involves delivering a genetically engineered RNA that modifies the target RNA. ⁵

The new genetic material or transgene is packaged into a delivery vehicle called vector. In the eyes, the vector used is a viral vector. The virus is modified, and it will not be able to replicate and its preferred due to its affinity to cells. The most common routes of delivery are intravitreal or sub-retinal injections but recently suprachoroidal delivery is preferred which may reduce surgical challenges. ⁶

Challenges in gene therapy

One of the main logistical challenges in gene therapy is the cost involved. In the United Kingdom it is estimated that the cost per patient is £613,410. ⁷ The National Health Service (NHS) in the UK has collaborated with the manufacturer to fund the drug which can be helpful to the patients, but it is still a huge cost to the system. But in developing and underdeveloped countries, there are few health services which can accommodate massive funds and close infrastructure gaps, keeping in mind the growing population and other healthcare conditions which need managing.

How can Artificial Intelligence (AI) help?

AI can significantly reduce the cost of gene therapy by streamlining various aspects of the therapy development, delivery, and monitoring processes. It can also significantly contribute to reducing logistic costs.

• Accelerating research and drug development: AI can analyse clinical and genetic data to identify the mutations and prioritise the target and can simulate different combinations reducing the need for expensive experiments. ⁸
• Enhanced clinical trials: By identifying large datasets, it can identify suitable subjects based on their genetic data and disease progression and can predict the outcome of the trial. ⁹
• Manufacturing process: AI can opitimise the production of viral vectors improving the yield and monitoring standards and reducing the chances of contamination. Through this it can also improve the scale of production while keeping the cost down. ¹⁰

Integrating AI into gene therapy development requires initial investments in technology. We must also ensure the ethical use of AI during decision-making processes.

References:

1. https://news.ufl.edu/2024/09/blindness-gene-therapy/
2. https://retinatoday.com/gene-therapy-and-the-future-of-eye-care
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6. Murphy, R., Martin, K.R. Genetic engineering and the eye. Eye (2024). https://doi.org/10.1038/s41433-024-03441-2.
7. https://www.macularsociety.org/about/media/news/2019/september/gene-therapy-rare-eye-disease-set-be-offered-nhs/
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