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Panel Discussion on Genomics: Advancements in Rare Disease Detection

Tonight, I continued watching the London Calling 2024 Clinical & Biopharma Day on Friday, May 24, 2024. I continued watching the expert panel on “Rare diseases reimagined: genomics in early detection and precision therapies,” which I started watching last night. Nabihah Sachedina, the VP of Health Programs with Oxford Nanopore Technologies (ONT) moderated the session. Paul Arvidson from Genomics […]
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Exploring Genomics in Rare Diseases at London Calling 2024

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 […]
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Innovations in Genetic Testing: The CRDC’s Impact

Wanqing Shao from Boston Children’s Hospital presented at the Nanopore Community Meeting on “Maximizing the power of genomic sequencing in pediatric rare disease.” Shao is a Genomics Scientist working in a collaborative team: the Children’s Rare Disease Collaborative (CRDC). They are interested in rare and complex diseases that are often misdiagnosed. Shao also noted that […]
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Updates from the ONT Applications Team

Dan Turner SVP of the Applications Team at Oxford Nanopore Technologies, presented the update from the Apps Team. Turner summarized the use of Nanopore data for clinical whole-genome sequencing of rare diseases and cancer with the goal of identifying relevant variants. Turner explained that although rare diseases are rare by definition, there are over 3,000 […]
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Rare Disease Diagnostics with ONT and Asuragen in the UAE

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 […]
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Methods for Exploring the Genotyping Haystack

The next Nanopore Community Meeting 2022 session I watched was a longer: 27 min. “Finding the needle: haplotype-resolved discovery and annotation of clinically relevant genetic and epigenetic variants using whole-genome nanopore sequencing” was presented by Sissel Juul and Phillipp Rescheneder, both from Oxford Nanopore Technologies. Juul described the work of their team to sequence genomes […]
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