genetics

  • Home
  • Tag: genetics
  • Page 5

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

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 […]
Read more

Innovative NESSI-Seq for Biomarker Discovery

Chad Pollard from Wasatch BioLabs spoke at the Biopharma Day at NCM Boston. The session’s title was “NESSI-Seq: novel cfDNA methylation assays for biomarker discovery and precision medicine.” Pollard described Wasatch BioLabs as a high-throughput nanopore sequencing lab. NESSI-Seq is a methylation analysis method. They developed a method to provide more methylation information than the […]
Read more

Nanopore Sequencing in Cell Therapy Testing

Stacy L. Springs from the MIT Center for Biomedical Innovation presented at the NCM Biopharma Day in Boston on “Application of nanopore long-read sequencing to sterility testing for cell therapy products.” Springs spoke about the diversity of impurities in biological medicines. They spoke about the need for rapid sterility testing in cell therapy manufacturing. Springs […]
Read more

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 […]
Read more

Basecalling Innovations in Direct RNA Sequencing

We’ve been discussing the direct RNA sequencing kit and process in class. Tonight, I watched Bronya Boydon, Machine Learning Bioinformatician with Oxford Nanopore Technologies, provide the “Direct RNA basecaller update” as part of the Nanopore Community Meeting. Boydon described how RNA is translocated through the pore. Direct RNA has the benefits of long reads, simplicity, […]
Read more

Understanding Structural Variants in Cancer Genomes

Michael Dean from the National Cancer Institute presented at the Nanopore Community Meeting in Boston on “Diverse structural variants cluster near breakage-fusion-bridge site in cancer genomes.” Dean spoke about oncogene amplification and the need for high-quality cancer genomes for SV analysis. They have developed a standard extraction method with size selection to obtain long reads. […]
Read more
Press ESC key to close search