Research into rare eye diseases at Ghent University: “It’s fair to say we rank amongst the world’s elite”

Around 8% of the world’s population suffers from a rare disease. In Belgium some 800,000 patients are affected. One of them is eighteen-month-old Oliver, who was born blind. He is closely monitored by professor Bart Leroy, whose team has made remarkable progress in the research into rare eye diseases. Still, there are quite a few stumbling blocks as well.

Professor Leroy: “I remember the day that Oliver came to us as if it were yesterday. I was in a meeting with two colleagues when they got a call from the emergency department. Could they come and take a look at Oliver. He was just two months old and there was a suspicion of a genetic disorder.

I was curious so I went along to the examination. I immediately suspected it was a case of Norrie disease, a disorder where the retina in the eyes develops poorly and is often detached from birth due to a genetic defect. One week later, a genetic test confirmed our initial suspicion. Just 400 people worldwide suffer from this disease.” 

A rapid diagnosis such as in Oliver’s case is far from evident. Professor Leroy: “I’m an old fart with tons of experience, you have to see loads of patients to be able to make such a diagnosis this early on. Our team of four specialists in hereditary eye diseases makes weekly diagnoses that have never been made anywhere else.”

Can research make a difference for Oliver?

Mum Sofie: “When five doctors are standing around your child, you know it can’t be good. I used to take good health for granted and it wasn’t until we had Oliver that I realised how exceptional it is to have healthy children. It can come to anyone’s doorstep in the blink of an eye.

Ghent University a world leader

“The research into hereditary blindness and visual impairment is at the forefront of knowledge in rare diseases. It is a showcase for what science can achieve. This is because the eye is so accessible.”

Professor Leroy and his team have achieved impressive results. Together with professor Elfride De Baere (molecular genetics) they decoded the genetics behind different forms of hereditary blindness. He also contributed to the development of an innovative gene therapy that involves the injection of viruses into the eye that deliver a functional copy of the defective gene to the retinal cells.

Bart Leroy: “Meanwhile we’ve treated 18 patients with the injections, partially restoring their eyesight. “It’s fair to say we rank amongst the world’s elite. We are one of the key opinion leaders worldwide.”

More investments are needed

The research into rare diseases and the development of medication nevertheless faces a number of challenges. Professor Leroy: “We work with small groups of patients, making large-scale studies impossible. This complicates our field. 

One of the challenges is securing new investors for the research into the treatment of rare diseases. Small pharmaceutical companies go bankrupt while larger players withdraw, not because their product is ineffective but because the introduction to market is so difficult.”

“It’s also difficult to obtain approval from regulators such as the European Medicines Agency (EMA) or its American counterpart FDA because their procedures are geared towards common diseases. However, the results of our research are different and often harder to fit into objective standards.

Still, I’m a bit of a rebel and I refuse to accept that. I’ve made it my mission to teach the regulators to see the results of innovative therapies for rare diseases through different eyes.”

Together we are stronger

In addition to sufficient means, collaboration with other specialists is essential to make progress and that goes well beyond the area of eye disorders. Professor Leroy: “For example, think of neurologists when a disease also has a neurological impact. Or psychologists who support patients when a diagnosis turns their life upside down. Or the molecular biologists who identify the underlying cause on a DNA level. Or bioengineers and biomedical scientists who help develop medicines. Or trainers who teach visually impaired and blind patients to walk with a white cane. We need all of them.”

Collaboration is also a key word within the walls of Ghent University and UZ Gent. World Rare Disease Day saw the launch of GUARD (Ghent University Action on Rare Diseases), a new research consortium of which professor Bart Leroy is also a member. “Who knows, there might be a veterinary scientist somewhere with an insight into the mechanism of a disease that also occurs in humans, or another researcher who knows certain techniques that could be useful. Knowing colleagues opens new avenues.”

Ghent doctors make a difference

Professor Leroy is driven by his job, but even more by his patients. “I like medicine but more than anything I want to do good for people. I love people, that’s why I do medicine.

My first question to a patient is always ‘how are you doing?’. One patient told us that thanks to our treatment, she can see her son’s lunch box when she’s preparing his lunch. That really moves me. By the way, that is characteristic of the local culture, both at Ghent University and UZ Gent. Our entire team radiates the same warmth.”

Sofie confirms: “We will never forget how they talked to us. In a clear and humane manner, at a time when your entire life is changing. I could call Bart with my questions so that I didn’t have to resort to Google. You need someone with compassion, someone you can trust.”