RARE Daily

Oxford Nanopore Launches Pilot Program with Al Jalila Children’s Specialty Hospital to Diagnose Rare Genetic Diseases

September 7, 2022

Oxford Nanopore Technologies and United Arab Emirates-based Al Jalila Children’s Specialty Hospital have entered into a new partnership to investigate the potential utility of nanopore sequencing for children with unresolved rare genetic disorders.

The partnership will aim to address current challenges in resolving rare disease cases at Al Jalila by leveraging new technology designed to give 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.

“Ultimately, this program 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,” said Gordon Sanghera, CEO of Oxford Nanopore Technologies.

The pediatric 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 percent of all disease-causing variations are larger than single base changes and are technically challenging to detect.

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.

“Oxford Nanopore is an emerging technology that 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,” said Ahmad Abou Tayoun, director of the Genomics Center of Excellence at Al Jalila Children’s Specialty Hospital. “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.”

Author: Rare Daily Staff

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