Oxford Nanopore and Al Jalila Children’s Specialty Hospital announce pilot programme to assess the potential utility of nanopore sequencing in unresolved rare disease cases

This partnership will use whole human genome sequencing to support actionable characterisation of rare genetic diseases.

Oxford Nanopore Technologies (Oxford Nanopore) and Al Jalila Children’s Specialty Hospital (AJCH) today announce a new partnership to investigate the potential utility of nanopore sequencing for children with unresolved rare genetic disorders. AJCH, the first and only dedicated children’s hospital in the United Arab Emirates, is at the forefront of paediatric genomic medicine and will work with Oxford Nanopore, the company behind a new generation of molecular sensing technology based on nanopores for real-time, accurate, rapid and scalable sequencing of DNA/RNA.

This partnership will aim to address current challenges in resolving rare disease cases at AJCH by leveraging new technology which gives greater visibility to a range of genetic variation. Oxford Nanopore will provide the systems and reagents as part of the partnership, and knowledge sharing will also be key to address these challenging cases.

The paediatric samples involved in this pilot have previously been interrogated by other sequencing methods that represent the current standard of care, however results continue to be elusive as these methods can detect single base-pair substitutions, but not larger disease-causing variations. Previous research shows that up to 34% of all disease-causing variations are larger than single base changes1 and are technically challenging to detect.

By applying nanopore sequencing with its ‘any read length' capabilities and accurate methylation analysis of native DNA, researchers and clinicians will gain greater genomic insights. In addition, a whole genome approach will enable researchers to proceed without a hypothesis. Nanopore sequencing is expected to reveal many types of genetic variation, such as large structural variants, which is a significant advantage compared to traditional methods of sequencing. The work will use Oxford Nanopore’s highest-throughput sequencing device for rapid results.

Gordon Sanghera, Chief Executive Officer, Oxford Nanopore Technologies, commented:

“Studying congenital genetic disorders is significant throughout healthcare due to the serious burden on affected individuals, families and societies. So we are delighted to be partnering with AJCH for this important pilot.

Ultimately this programme aims to deliver answers in real-time with complete visibility of the whole genome and epigenome, and to provide a greater understanding into the underlying disease for improved patient care in the future. We look forward to this work delivering accurate, affordable, scalable and comprehensive insights for complete genome information.”

Dr. Ahmad Abou Tayoun, Director of the Genomics Center of Excellence, AJCH, commented:

“Al Jalila Genomics Center of Excellence is focused on bringing state-of-the-art genomic tools to diagnose patients with rare disorders in the Middle East, a region with a relatively high genetic disease burden. As such, we are poised to adopt the latest technologies to improve our ability to find answers for those families, and to deliver best management plans.

Oxford Nanopore is an emerging technology which promises to enhance our ability to search patients’ genomes, and to query novel genomic and epigenomic variation that have previously been inaccessible, leaving several families without answers or appropriate clinical management. Through this collaboration, we will start assessing the utility of long read sequencing, and the additional value it brings to Middle Eastern patients with rare diseases. Findings from this study will inform future plans for implementing long read sequencing in clinical settings in this part of the world.”

Broad applications

An increased rate of genetic disorders has been noticed among live births in the Middle East, therefore unravelling the genetic causes of disease is of great value for families and society. These conditions include hearing loss, spinal muscular atrophy and fragile X, among others, for which nanopore sequencing could significantly improve their identification.

The findings from this programme will lead to the future development of accurate molecular screening tests leveraging the unique capabilities of nanopore sequencing.



1. Genetic Variation, Comparative Genomics, and the Diagnosis of Disease. Evan E. Eichler, July 2019. N Engl J Med. 2019 Jul 4; 381(1): 64–74.

Contact: media@nanoporetech.com

About Oxford Nanopore Technologies

Oxford Nanopore Technologies’ goal is to bring the widest benefits to society through enabling the analysis of anything, by anyone, anywhere. The company has developed a new generation of nanopore-based sensing technology for real-time, high-performance, accessible and scalable analysis of DNA and RNA. The technology is used in more than 120 countries to understand the biology of humans and diseases such as cancer, plants, animals, bacteria, viruses and whole environments. Oxford Nanopore Technologies products are intended for molecular biology applications and are not intended for diagnostic purposes.

Forward-looking statements

This announcement contains certain forward-looking statements. Phrases such as "potential", “expect”, "intend", “believe we can”, “working to”, "anticipate", "when validated", and similar expressions of a future or forward-looking nature should also be considered forward-looking statements. Forward-looking statements address our expected future business, and by definition address matters that are, to different degrees, uncertain and may involve factors beyond our control.

About Al Jalila Children’s Specialty Hospital

Al Jalila Children’s Specialty Hospital is the first dedicated children’s hospital in the United Arab Emirates. The state-of-the-art paediatric medical facility was created under the directives of His Highness Sheikh Mohammed Bin Rashid Al Maktoum, Vice President and Prime Minister of the UAE, and Ruler of Dubai. Inaugurated on November 1, 2016, Al Jalila Children’s is an ultramodern paediatric hospital that aims to be the driving force behind the tertiary and quaternary care facility in the region. Our world-class teams of highly qualified medical experts and paediatricians are setting new standards for paediatric healthcare excellence on a local and regional level.