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Oxford Nanopore, Al Jalila Children's Specialty Hospital Launch Rare Disease Sequencing Program

NEW YORK – Oxford Nanopore Technologies said on Tuesday that it has launched a pilot program with Al Jalila Children's Specialty Hospital (AJCH) in the United Arab Emirates to explore the utility of nanopore sequencing in unresolved rare disease cases.

The partnership aims to solve challenging rare disease cases by leveraging new technology with "greater visibility to a range of genetic variation," according to Oxford Nanopore. As part of the collaboration, the company will provide sequencing systems and reagents, as well as facilitate knowledge sharing. In addition, Oxford Nanopore said it will collaborate with AJCH on optimizing the workflow and informatics to support the clinicians involved in this work.

The pediatric samples involved in the project have previously been interrogated by other sequencing methods that can detect single-base changes but not larger disease-causing variants, Oxford Nanopore said. To help solve these cases, the program will perform whole-genome sequencing and methylation analysis using Oxford Nanopore's highest-throughput sequencing device for rapid results, the company said.

"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," said Ahmad Abou Tayoun, director of the Genomics Center of Excellence at AJCH, in a statement. "Findings from this study will inform future plans for implementing long-read sequencing in clinical settings in this part of the world."