Al Jalila Children’s Hospital advances rare disease identification through Oxford Nanopore sequencing, a new study shows

Al Jalila Children’s Hospital in Dubai, supported by Oxford Nanopore Technologies, the company behind a new generation of molecular sensing technology based on nanopores, has published a new preprint study that could have a profound impact for the identification of rare diseases, particularly in the Middle East.

The research was led by Dr. Ahmad Abou Tayoun, Director of Genomic Center at Al Jalila Children's Hospital and Associate Professor for Genetics at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU). According to Dr. Abou Tayoun’s paper, there are around 7,000 rare diseases globally contributing to a significant socioeconomic burden, driven by lengthy patient diagnostic odysseys.

Increasing this journey is the reliance on existing technologies, where nearly half of patients managing rare disease conditions remain undiagnosed. Dr. Abou Tayoun and his team utilised a PromethION P24 device applied to samples that had previously been sequenced with short-read technologies and were able to identify rare diseases in a further 13% of cases. In addition, the team found novel methylation tag specific to spinal muscular atrophy (SMA), facilitating the diagnosis of the disease.

“Identification of these diseases, many of which are genetic, is a particularly acute issue in the Middle East where a lack of genetic data holds the identification of rare diseases back,” said Gordon Sanghera, CEO, Oxford Nanopore. “Through leveraging the power of our sequencing platforms, Dr. Abou Tayoun and his team hope to address a major unmet need for the region.”

The integration of Oxford Nanopore's any read length sequencing technology enables the identification of novel genetic variants, fusion transcripts, and epitranscriptomic modifications, significantly contributing to the understanding of disease mechanisms in critically ill patients and understudied populations. The PromethION platform’s ability to deliver fast, accurate, and richer genomic insights is a cornerstone of this research.

Dr. Abou Tayoun, the lead scientist overseeing the research, said: "This study highlights the transformative potential of integrating multiomic analyses using Oxford Nanopore’s sequencing technology. Our collaborative efforts aim to advance genomic research and future clinical diagnostics, offering new hope for patients with rare and undiagnosed diseases."

The study helps crystalise the potential for future clinical applications of Oxford Nanopore’s technology. Plans to validate clinical assays for specific genetic disorders demonstrate the potential for this technology to transform identification of rare diseases, making comprehensive genomic analyses more accessible and efficient.