Year: 2024

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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Long-Read Sequencing: Key Insights from Rady Children’s Institute

Matthew Bainbridge from the Rady Children’s Institute for Genomic Medicine in the US spoke at the Nanopore Community Meeting in Boston. The session was titled “Long-read sequencing for detecting methylation dysregulation.” Bainbridge noted that they see almost 250,000 children a year and are the only children’s hospital in Riverside County. Most of the children they […]
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Evaluating Hospital Infection Transmission with Nanopore Sequencing

Samuel Shelburne from the University of Texas MD Anderson Cancer Center presented at the Nanopore Community Meeting in Boston. The session’s title was “Use of Oxford Nanopore sequencing to evaluate potential transmission of hospital infections.” Shelburne began by discussing healthcare-associated infections (HAIs), which are among the top ten leading causes of death in the US! Infection Prevention […]
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Understanding RNA Modifications: Insights from Nanopore Sequencing

Logan Mulroney from the EMBL-EBI in the UK and Italy spoke at the Nanopore Community Meeting in Boston. The title of the session was “A survey of RNA modifications across the human transcriptome by direct RNA nanopore sequencing.” They spoke about RNA modification and their implications in diseases such as cancer. RNA modifications can have […]
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Advancements in Nematode Research through Long-Read Sequencing

Laura Kamenetzky from CONICET Argentina presented at the Nanopore Community Meeting in Boston on “Consolidation of a long-read sequencing platform in southern South America.” They have established the first long-read sequencing platform in Argentina at a university. Since 2020, they have focused on several scientific questions. Kamenetzky spoke about their projects related to Dioctophyme renale […]
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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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Microbial Identification Methods in Biopharma

Radhakrishna Tirumalai from Meck presented at the ONT Biopharma Day in Boston. The session, “Microbial identification in biopharma, ” focused on microbial identification methods in the biopharma industry. Tirumalai explained that analytical techniques can be appropriate in specific scenarios. For example, a microbial identification system may require precise identification at the genus or even strain […]
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Post-Vaccination Insights: Antibody Sequencing Techniques

Scott Hickey, the Director of Commercial Applications at Oxford Nanopore Technologies, spoke at the ONT Biopharma Day in Boston. The session’s title was “Antibody discovery through post-vaccination single-cell transcriptomics and haplotype-resolved germline sequencing.” Hickey spoke about a de novo full-length antibody identification through sequencing. B cell activation and proliferation were described along with the diversity […]
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mRNA Vaccine Quality Control with Nanopore Sequencing

Helen Gunter from The BASE Facility of The University of Queensland in Australia presented at the ONT Biopharma Day. The session’s title was “Using nanopore sequencing for mRNA vaccine quality control: a journey from R&D to GMP.” They noted that since the COVID vaccines, there has been interest in synthetic mRNAs. Gunter spoke about the […]
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Advancements in Adventitious Agent Detection at ONT Biopharma Day

Serge Monpoeho from Regeneron Pharmaceuticals in the US presented at the ONT Biopharma Day in Boston. The title of the session was “Adventitious agent screening by long-read NGS.” They wanted to develop an Oxford Nanopore-driven adventitious agent detection system. They used the Ligation Sequencing Kit, heat extraction, and custom universal PCR primers. They ran for […]
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