The Emirati Genome Programme has identified how a person's genetics can help doctors assess the risk of inherited vision loss in a breakthrough that will help prevention and precision care.
The findings challenge long-held assumptions about genetic risk, showing that genes linked to inherited eye conditions do not affect everyone in the same way.
The landmark study, conducted by M42 and the Department of Health, analysed genomic data from more than 500,000 Emiratis. It is one of the world's largest population-based investigations of inherited retinal disease.
Rather than estimating how many people are affected, the study focused on how often genetic risk translates into real vision loss.
What did the study find?
The research is linked to the population's electronic health records through Malaffi, Abu Dhabi’s national health platform.
It allows researchers to compare genetic variants with medical outcomes across an entire population.
Scientists studied inherited retinal disease in patients who already have vision loss, and also in thousands of people who carry genetic variants yet remain healthy.
The study, titled The Emirati Genome Programme Enables Population-wide Penetrance Estimation and Novel Discovery for Inherited Retinal Disease, examined nearly 1,900 genetic variants previously linked to inherited vision loss.
Of these, 96 variants showed a strong and consistent association with disease. The research also revealed that less than 20 per cent of individuals believed to be genetically at risk of inherited retinal disease had vision loss documented in their medical records.
“This is one of the most important insights from population-scale genomics,” Tiago Magalhaes, vice president of bioinformatics at M42 and lead author of the study, told The National.
“Having a genetic variant does not mean someone will definitely develop disease. Genetics works in probabilities, not certainties.”
By studying hundreds of thousands of genomes, researchers were able to measure what scientists call “penetrance” – how often a genetic variant actually leads to disease.
Smaller studies, Mr Magalhaes said, often overestimate risk because they only include people who are already ill.
Why it matters
The scale of the data also allowed scientists to reassess hundreds of genetic variants previously classified as “variants of uncertain significance”, which means doctors could not be sure whether they caused disease.
“We were able to reclassify more than 200 variants,” said Budour Khalid Omar Muhsin Alkaf, senior bioinformatician at M42. “Some variants that were causing concern turned out not to be harmful in this population, while others showed strong evidence of being disease-causing.”
This distinction is critical for patients and families, she said, as it reduces unnecessary anxiety and allows doctors to focus on those people who need monitoring or early intervention.
One of the clearest examples involved the ABCA4 gene, which is linked to Stargardt disease – an inherited condition that damages central vision and often begins in childhood or adolescence.
While clinicians had previously observed this gene in Emirati families, the national data set confirmed a consistent pattern across the wider population, particularly among children who inherited the same variant from both parents.
Rather than predicting blindness with certainty, the study enables earlier and more accurate identification of genetic risk, allowing doctors to monitor patients before symptoms appear and to tailor care more precisely.
“This gives clinicians far better tools,” Mr Magalhaes said. “They can distinguish between variants that require close follow-up and those that do not, based on evidence from their own population.”
The findings also show that a genetic variant being common in a population does not necessarily increase disease risk – an insight that could help prevent overdiagnosis and unnecessary treatment.
While the study itself does not directly contact individuals identified as genetically at risk, it provides a scientific foundation for future screening guidelines, genetic counselling frameworks and preventive strategies led by health authorities.
“This is only the beginning,” Ms Alkaf said. “Population-scale genomics is reshaping how we understand disease – not just for inherited vision loss, but for many conditions that affect families across generations.”
What is the Emirati Genome Programme?
The Emirati Genome Programme is a national initiative to sequence and analyse the DNA of UAE citizens to better understand how genetics influences health and disease across the population.
It is one of the largest population genome initiatives in the world and uses the latest genetic sequencing technologies and artificial intelligence to obtain high-quality data that enables large-scale scientific research and discovery.
The programme has collected and sequenced genetic data from more than 800,000 Emiratis, placing it among the world’s most comprehensive national genomics efforts and bringing it closer to its long-term goal of one million genomes.
