PacBio announced plans to pursue a strategic collaboration with the n-Lorem Foundation and EspeRare that they believe will position long-read whole-genome sequencing as enabling infrastructure to support the development of individualized antisense oligonucleotide (ASO) therapies for ultra-rare genetic diseases.
Under the proposed collaboration, PacBio will provide its scientific expertise, and the collaboration will utilize PacBio’s long-read whole genome sequencing technology, to study the design, feasibility assessment, and molecular characterization of ASO therapies – to help extend the role of long-read genomics for those who may lack effective treatment options.
ASO therapies require a complete understanding of the genomic architecture, including variant phasing, structural variation, repeat expansions, and regulatory alterations that are frequently missed or unresolved by standard sequencing approaches. By integrating long-read whole-genome sequencing earlier in the therapeutic development process, the proposed collaboration will aim to reduce the need for multiple sequential tests, accelerate target validation, and improve confidence in ASO design.
Under the proposed collaboration, PacBio will donate sequencing reagents and provide expert scientific resources to support long-read genome analysis for research to further development of therapeutic treatments for individuals with rare diseases. These efforts are intended to directly inform target identification, ASO design feasibility, and regulatory-grade molecular characterization, strengthening the end-to-end pipeline from genomic discovery to enabling development of therapeutic interventions.
n-Lorem Foundation is a nonprofit organization dedicated to discovering, developing, and providing free, individualized ASO therapies for patients with rare genetic diseases, often under patient-specific regulatory pathways. The EspeRare foundation works to unlock and advance translational infrastructure, partnerships, and patient access to novel therapeutics across rare disease communities. Together, the organizations represent a complementary ecosystem spanning patient identification, molecular characterization, therapy development, and clinical implementation.
