How university research can uncover causes of and treatments for rare diseases
At Mohammed Bin Rashid University of Medicine and Health Sciences, research into rare diseases is driving improvements in diagnosis and treatment regionally and globally
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Rare diseases can pose unique challenges for researchers. Compared with more ubiquitous conditions, it can be difficult to procure funding to improve diagnoses and treatments for rare diseases. However, Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), located in Dubai, the United Arab Emirates, is committed to improving awareness, understanding and treatment of rare diseases.
“The first step towards any successful disease treatment is defining the underlying cause,” says Ahmad Abou Tayoun, director of Dubai Health Genomic Medicine Centre and associate professor at MBRU’s College of Medicine.
“I wear two hats,” Abou Tayoun explains. “I carry out genomic diagnostics for patients with rare diseases and I also conduct research that is more about discovery, especially where rare diseases may not have been extensively characterised.”
In addition to disease discovery, Abou Tayoun’s research also makes use of new technological applications, such as rapid whole genome sequencing, to enhance the timely diagnosis of patients with rare diseases. The genomics centre comes under the umbrella of Dubai Health, the city’s first integrated academic health system, and has been providing researchers access to these new technologies since 2018.
“Within a year or so of founding, initially at Al Jalila Children’s Hospital within Dubai Health, the genomics centre was offering genomic diagnostics to patients with rare diseases,” Abou Tayoun says. “During the Covid-19 pandemic, we became the main hub in Dubai for genomics surveillance. Since then, we have returned to focusing on diagnostics, identifying novel treatments and offering services for all Dubai Health hospitals in the city, not just those prioritising children.”
The centre’s research output has contributed to the broader understanding and treatment of rare diseases, with numerous academically accredited papers published by the team.
“We also have multidisciplinary teams working on our next steps,” Abou Tayoun says. “For instance, we have three or four clinical trials already operating in the hospital, running in collaboration with pharmaceutical companies, demonstrating the real-world impact stemming from our research.”
Collaboration is vital when working on rare disease diagnostics and treatment, says Abou Tayoun. When dealing with rare diseases, it can be difficult to find enough patients sharing the same condition to conduct further research into that disease. In such cases, international collaboration is key.
Emerging technologies and data also play an important role in the diagnostic process for rare diseases. “For example, we are investigating a novel technology called long-read sequencing and have used it to identify an additional 10 per cent of patients with a particular condition compared with standard approaches.”
Despite recent advances, challenges around implementing new diagnostic technologies in clinical settings remain, particularly when researching rare or underdiagnosed diseases.
“In Dubai, we may have the latest technologies and advanced infrastructure, but access to talent can be difficult sometimes,” Abou Tayoun acknowledges. Dubai Health is an academic system designed to develop expertise in healthcare and research and provides training on specialised skill sets to ensure a sustainable talent pipeline in the city. The genomics centre is currently hosting more than five graduate, doctoral and postdoctoral trainees who will become key contributors to the field of genomics in the future.
about the Mohammed Bin Rashid University of Medicine and Health Sciences.