Danny E. Miller from the University of Washington presented at London Calling 2025 on “A diagnostic blind spot: an intronic SVA_E insertion as the most common cause of Canavan disease.” Miller returned to some ideas he has presented saying long-read sequencing has great potential for genetic workups. Traditional genetic workup is often “stepwise and diagnostic […]
Nathalie Kingston and Kathy Stirrups from the NIHR BioResource in the UK presented at London Calling 2025 on “Using long-read sequencing for translational health research.” The NIHR BioResource has ~300,000 participants and a recallable resource. Samples can be identified by phenotype and genotype. The BioResource has panels of participants from several diseases and groups. Stirrups […]
Tonight, I continued watching the Oxford Nanopore Technologies London Calling 2024 expert panel on “Building a rapid, targeted, and responsive infectious disease system.”Aaron Pomerantz, the Global Segment Marketing Associate Director at ONT, facilitated the session. All panelists were invited to the stage after doing brief introductions. Rahul Batra from Guy’s and St. Thomas’ NHS Foundation Trus […]
London Calling 2024 had a Clinical & Biopharma Day on Friday, May 24, 2024. There was an expert panel on “Rare diseases reimagined: genomics in early detection and precision therapies” that I started watching tonight. Nabihah Sachedina, the VP of Health Programs with Oxford Nanopore Technologies (ONT) moderated the session. Five speakers were part of […]
Thomas Garcia from Baylor College of Medicine spoke at the Nanopore Community Meeting in Boston on “Long-read sequencing for comprehensive profiling of infertile men.” There are pre and post-testicular causes of infertility, Garcia mentioned. Pre-testicular causes include Kallmann syndrome, Beta thalassemia, and sickle disease. Intrinsic testicular causes of infertility include chromosomal abnormalities, Y-chromosome microdeletions/duplications, and […]
Tasos Gogakos from Arena BioWorks and Massachusetts General Hospital spoke at the ONT Biopharma Day. The title of the session was “Nanopore sequencing at the intersection between the clinic and biotech.”Gogakos is a clinical pathologist who recently started at Arena BioWorks. Gogakos began by sharing two clinical cases. The patient had lung cancer and molecular […]
Christopher Oakes from The Ohio State University spoke at London Calling 2019 on “Discerning the origin of Epstein-Barr virus in patients using nanopore-derived DNA methylation signatures.” Oakes spoke about how they study tumor viruses and cancer. The Epstein-Barr virus is common, the “prototypical cancer virus,” according to Oakes. Immune cells suppress the virus, but the […]
Weizhi Chen from Simcere Diagnostics presented a lightning talk at the Nanopore Community Meeting 2017 titled “Nanopore metagenomics sequencing for identification of both culture-positive and culture-negative pathogens.”Chen explained how they are using MinION and sequencing for infectious disease diagnostics. These labs are associated with labs in China. The first case report Chen shared was the […]
Justin O’Grady, Associate Professor in Medical Microbiology at the University of East Anglia, presented at the Nanopore Community Meeting 2017 on “Rapid metagenomic diagnosis of hospital acquired pneumonia.” They spoke about the “loss” of effective antibiotics because of rising resistance. O’Grady suggests using metagenomics-based infection diagnostics to use narrow-spectrum antibiotics. Nanopore sequencing is useful because […]
Tonight I watched the Nanopore Community Meeting 2021 recording featuring Areeba Patel and titled “Rapid-CNS2: rapid, comprehensive adaptive nanopore sequencing of central nervous system (CNS) tumours.” Patel is at the German Cancer Research Center (DKFZ) and the University Hospital Heidelberg, Germany. Patel spoke about the use of molecular diagnostics for CNS tumors. They noted the […]