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Precision Therapies for Rare Genetic Diseases
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PacBio Announces Plans for Collaboration With n-Lorem Foundation and EspeRare to Advance Precision Therapies for Rare Genetic Diseases
Globenewswire· 2026-01-12 14:15
Core Insights - The collaboration between PacBio, n-Lorem Foundation, and EspeRare aims to utilize long-read whole-genome sequencing to develop individualized antisense oligonucleotide (ASO) therapies for ultra-rare genetic diseases [1][2][5] Group 1: Collaboration Details - PacBio will provide scientific expertise and long-read whole genome sequencing technology to assess the design and feasibility of ASO therapies [2][4] - The collaboration intends to enhance the understanding of genomic architecture, which is crucial for effective ASO therapy development [3][5] Group 2: Goals and Impact - The integration of long-read sequencing is expected to reduce the need for multiple tests, accelerate target validation, and improve confidence in ASO design [3][4] - The collaboration aims to establish HiFi long-read whole genome sequencing as the preferred platform for precision therapeutic development in rare diseases [5][6] Group 3: Organizational Roles - n-Lorem Foundation focuses on providing free, individualized ASO therapies for patients with rare genetic diseases, while EspeRare works to advance therapies through strategic partnerships [5][10][12] - Together, these organizations create a complementary ecosystem that spans patient identification, molecular characterization, therapy development, and clinical implementation [5][12]