UAE genome study shows genes don’t guarantee inherited blindness

The UAE's national genome project has made a major discovery about inherited eye disease. After studying genetic data from more than 500,000 Emiratis, researchers found that carrying genes linked to vision loss doesn't guarantee you'll go blind.

The findings overturn common assumptions about genetic risk. Scientists discovered that genes tied to inherited eye conditions don't affect everyone the same way. Most people who carry these supposedly dangerous genetic variants never develop vision problems at all.

The study represents one of the world's largest investigations into inherited retinal disease. Instead of just counting how many people might be affected, researchers focused on how often genetic risk actually turns into real vision loss.

How does it work?

The research team at M42 and the Department of Health linked genetic data to actual medical records through Malaffi, Abu Dhabi's health platform. This allowed them to compare genetic variants with real health outcomes across an entire population.

Scientists examined nearly 1,900 genetic variants previously thought to cause inherited vision loss. They found that only 96 variants showed a strong and consistent link to disease. More importantly, less than 20% of people believed to be genetically at risk actually had vision loss documented in their medical records.

"Having a genetic variant does not mean someone will definitely develop disease," says Tiago Magalhaes, vice president of bioinformatics at M42 and lead author of the study. "Genetics works in probabilities, not certainties."

The massive scale allowed researchers to measure "penetrance" - how often a genetic variant actually leads to disease. Smaller studies often overestimate risk because they only include people who are already sick.

Why does it matter?

The research helps doctors distinguish between genetic variants that need close monitoring and those that don't. This reduces unnecessary anxiety for patients and families while allowing medical teams to focus on people who actually need early intervention.

The team was able to reclassify more than 200 genetic variants that doctors previously couldn't interpret with confidence. "Some variants that were causing concern turned out not to be harmful in this population, while others showed strong evidence of being disease-causing," explains Budour Khalid Omar Muhsin Alkaf, senior bioinformatician at M42.

One clear example involved the ABCA4 gene, linked to Stargardt disease - an inherited condition that damages central vision in children and teenagers. The national dataset confirmed consistent patterns across the population, particularly in children who inherited the variant from both parents.

Rather than predicting blindness with certainty, the study enables earlier and more accurate identification of genetic risk. Doctors can now monitor patients before symptoms appear and tailor care more precisely based on evidence from their own population.

The context

The Emirati Genome Programme is a national initiative to sequence and analyze the DNA of UAE citizens. It aims to understand how genetics influences health and disease across the population.

The programme has collected genetic data from more than 850,000 Emiratis, making it one of the world's most comprehensive national genomics efforts. The long-term goal is to reach one million genomes.

"This is only the beginning," says Alkaf. "Population-scale genomics is reshaping how we understand disease - not just for inherited vision loss, but for many conditions that affect families across generations."

The study provides a scientific foundation for future screening guidelines, genetic counseling frameworks and preventive strategies. While it doesn't directly contact individuals identified as genetically at risk, it gives health authorities better tools to develop targeted interventions.