screening

Advancements in Precision Oncology: Key Insights from London Calling 2024

Tonight, I continued watching a session from the London Calling 2024 Clinical & Biopharma Day. The expert panel’s title was “Precision oncology: driving better outcomes for patients, health systems, and populations.” Olivier Lucas, the Director of Oncology with Oxford Nanopore Technologies (ONT), moderated the discussion. The audience asked the panelists questions about sensitivity and risk determination. William Stanford from […]
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Improving Reproductive Therapies with Nanopore Sequencing

Svetlana Madjunkova from the CReATe Fertility Centre in Canada presented at the Nanopore Community Meeting in Boston. The session’s title was “Nanopore sequencing in reproductive care.” Nanopore sequencing can be used in reproductive care at several stages of assistive reproductive therapies. Preimplantation genetic testing can improve the success of transfers. Madjunkova noted that current next-generation […]
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Unveiling the Potential of Long-Read Sequencing in Newborn Screening

Tonight, I watched Cate Paschal from the Seattle Children’s Hospital. They spoke about “Exploration of long-read sequencing in the resolution of newborn screening.” This was a London Calling 2024 session. Paschal spoke about newborn screening as a diagnostic test for rare diseases. Paschal explained that Pompe disease is a glycogen storage disorder with a prevalence […]
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Rapid Nephrogenomics for Thrombotic Microangiopathies: Significant Time Frame Improvements

Tonight I watched the London Calling session on “Rapid nephrogenomics for thrombotic microangiopathies.” Laurent Mesnard from Sorbonne University in France was the presenter. They defined thrombotic microangiopathies (TMA) as a group of rare diseases with similar manifestations. Early diagnosis of TMA is essential. It currently takes about three days to screen. The Regulator of Complement […]
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Discovering Deeply Intronic Mutations with Nanopore Sequencing

Tom Walsh from the University of Washington in the USA spoke at London Calling about “Discovery of deeply intronic damaging mutations with nanopore sequencing.” Walsh explained that in the 1990s, genetic testing for predisposition to breast cancer began. In the 200s, additional cancer-risk genes were discovered. Now, there are numerous panels and ten genes for […]
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GRAID to Facilitate Technology Transfer and Training

Tonight, I watched the recording of Lucky Ronald Runtuwene from the University of Tokyo in Japan from London Calling 2019. Runtuwene is part of a sequencing core at a university campus. They have several Illumina devices and a PromethION. Their goal is to expedite research in developing countries. They started a collaboration with Indonesia, starting […]
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Screening for Klinefelter Syndrome

Anne Kristine Schack from the University of Copenhagen and gMendel, Denmark spoke at London Calling 2022 about “A novel assay based on Oxford Nanopore technology for potential mass screening of Klinefelter syndrome.” They explained that Klinefelter Syndrome is a genetic disorder in which there is an additional X chromosome and it affects one in 500 […]
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