Ahmad Abou Tayoun from the Al Jalila Children’s Specialty Hospital in the United Arab Emirates, presented at London Calling 2023 a session entitled “Nanopore sequencing as a potential diagnostic tool for genetic diseases in the Middle East.” They noted that “rare diseases are individually rare but are collectively common…” There are globally ~6,000 rare diseases with 6% cumulative prevalence ~400 million globally! Wow. The average diagnostic odyssey is five years long, said Abou Tayoun. They also recognized the challenges faced by the United Arab Emirates for diagnosing rare diseases. The Al Jalila Genomics Center has capacity for genetic testing. The goal of the Center was to work with Oxford Nanopore Sequencing to develop “a single comprehensive long read whole genome sequencing assay” and “optimize and test with samples of known & unknown genetic findings (negative by short read sequencing). Abou Tayoun explained that they have been “able to automate variant calling” in their Center. Their pipelines are able to call numerous variants including differences in methylation. Abou Tayoun shared data from several cases that were confirmed by molecular approaches such as PCR. They explained that they are now able to use a single assay for multiple rare diseases. Working with ONT and Asuragen, they are developing an SMA testing program. The assay has two components and tubes: ‘short,’ 2-3 kb amplicons and a second tube with longer amplicons to resolve copy number. Abou Tayoun summarized that there are exciting opportunities with long-read technologies and targeted sequencing of regions associated with rare diseases. I don’t know much about Asuragen and would like to learn what other assays they have developed and how they work, if possible.
