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Addressing Rare Genetic Diseases: Insights from Paula Saffie

Paula Saffie from Clinica Santa Maria in Chile presented at the Nanopore Community Meeting in Boston on “Long-read sequencing: bridging the diagnostic gap for undiagnosed cases in Chile.” Saffie is a clinician and is working on a Ph.D. in Parkinson’s. Saffie wants to study the genetic diseases that their patients suffer. They spoke about rare […]
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Personalized Diagnostics Through Nanopore Technology Advances

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 […]
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Advancements in AAV Genome Sequencing

Keith Connolly from Modalis Therapeutics spoke at the Biopharma Day in Boston. The title of the session was “Nanopore sequencing and functional screening of AAV genomes for optimal production and function.” Modalis is developing a platform for gene expression modulation. They have been packaging promoters, transgenes, poly(A) signals into AAV genomes. They have been using […]
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Nanopore Sequencing Revolutionizes Cell Engineering

Daniel K. Fabian from Lonza in the UK presented at the Biopharma Day in Boston on “Precision cell engineering enabled through nanopore sequencing.” Lonza Biologics produces therapeutic molecules for clients using CHO cell-based manufacturing pipelines. The first step is the construction of the vector. The DNA is transfected into their cell line, and clones are […]
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Understanding Copy Number Variations in Intraoperative Brain Tumor Detection

Chun-Chieh Lin from Dartmouth Health spoke at the Nanopore Community Meeting in Boston on “Nanopore-based random genomic sampling for intraoperative diagnosis of brain tumors and beyond.” They focused on copy number and methylation alterations. Lin explained that copy number variation (CNV) is a common variant. Current approaches are karyotyping and comparative genomic hybridization, targeted with […]
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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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Revolutionizing Genetic Research: needLR Tool Explained

J. (Gus) Gustafson from the University of Washington spoke at the Nanopore Community Meeting in Boston about “needLR: a structural variant filtering and prioritization tool for long-read sequencing data.” They noted that half of suspected Mendelian conditions remain undiagnosed after current clinical testing methods. The Miller Lab at the University of Washington uses Oxford Nanopore […]
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Resolving DMD Intragenic Duplications with Nanopore Technology

Tonight, I watched Qiliang (Andy) Ding from the Mayo Clinic present at the Nanopore Community Meeting in Boston. The session’s title was “Resolving structural configurations of DMD intragenic duplications through nanopore long-read sequencing.” Ding is a Laboratory Genomics Fellow. Ding noted that the DMD gene encodes dystrophin, an essential protein for muscle function. This gene is associated […]
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Revolutionizing DNA Methylation Detection with Nanopore Sequencing

Dmitrijs Rots from Erasmus MC in the Netherlands presented at the Nanopore Community Meeting in Boston (NCM Boston 2024) on “DNA methylation signature detection using ultra-rapid, long-read nanopore genome sequencing.” Rots mentioned that Erasmus MC is one of the largest hospitals in Europe! The team wanted to implement nanopore sequencing to test for methylation and […]
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Exploring EPI2ME: Bioinformatics for Genomic Characterization

Tonight, I continued watching the ONT webinar I started last night, which focused on scalable human genomic characterization with nanopore sequencing. The second speaker was Anthony Doran, Associate Director of Bioinformatics Field Applications with Oxford Nanopore Technologies. Doran’s session was titled “Bioinformatics from beginner to production: EPI2ME, Oxford Nanopore’s data analysis platform.” ONT’s theme this […]
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