51吃瓜

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 the understanding of those diseases. 

“The first step towards any successful disease treatment or management 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.

“At Dubai Health, I wear two hats,” Abou Tayoun explains. “I carry out clinical genomic testing to diagnose patients with inherited diseases, and conduct research to discover novel causes of rare diseases in undiagnosed patient groups.” 

In addition to discovery, Abou Tayoun’s research also investigates the clinical implementation of new technological applications, such as rapid whole genome sequencing and its ability to enhance the timely diagnosis and management of critically ill patients in neonatal and paediatric intensive care units. “Furthermore, we have been investigating novel multi-omic technologies such as long-read sequencing, which improves our ability to diagnose patients by an additional 10 per cent compared with standard approaches,” he says. 

The centre’s research output has contributed to a broader understanding of the genomic landscape of rare diseases in the region, with numerous accredited papers published by the team in top-tier, peer-reviewed journals. “The research has attracted international collaborations and private funding from genomic and pharmaceutical companies, helping us expand the scope of our research,” Abou Tayoun says. 

 

Collaboration is vital in rare disease research, he says. It can be difficult to find patients sharing the same condition to appropriately study rare diseases. In such cases, international collaboration with academic and private institutions is key. 

The genomics centre comes under the umbrella of Dubai Health, the city’s first integrated academic health system, and has been providing researchers and clinicians with access to these new technologies since 2018. 

“Within a year 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 for genomics surveillance in Dubai, supporting public health decisions in the city. Since then, we have returned to focusing on diagnostics and discovery as well as integrating genomic medicine across all Dubai Health hospitals,” Abou Tayoun says. 

Besides providing genomic diagnostics for patients with rare diseases, the Genomic Medicine Centre supports family medicine through premarital genomic sequencing-based carrier screening for local couples. This screening is accompanied by genetic counselling to guide families in making decisions about family planning and preventing the incidence of inherited rare disorders. Furthermore, the centre is in the process of developing prenatal and cancer genomic services to support obstetrics, gynaecology and oncology.

“The centre has integrated genomic medicine into the Dubai Health ecosystem, empowering clinicians to provide personalised treatment and preventive regimens to patients. It fills knowledge gaps about rare diseases by conducting research on our patient population, translating findings to better care for patients,” Abou Tayoun says.

Dubai Health is an academic system designed to develop expertise and provide training on specialised skillsets 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.