PacBio Partners with n-Lorem Foundation and EspeRare to Advance Personalized ASO Therapies for Ultra-Rare Genetic Diseases
核心洞察
PacBio (搜索) announces strategic collaboration with n-Lorem Foundation and EspeRare (搜索) to position long-read whole-genome sequencing as enabling infrastructure for individualized antisense oligonucleotide therapy development.
The collaboration will utilize PacBio (搜索)'s HiFi sequencing technology to improve ASO design feasibility and molecular characterization for nano-rare patients with 1-30 cases worldwide.
n-Lorem Foundation has received over 380 treatment applications, approved more than 200 nano-rare patients, and currently has more than 30 patients on experimental ASO treatment.
PacBio (搜索) announced plans for a strategic collaboration with the n-Lorem Foundation and EspeRare (搜索) that aims to establish long-read whole-genome sequencing as critical infrastructure for developing individualized antisense oligonucleotide (ASO) therapies for ultra-rare genetic diseases (搜索). The partnership addresses the urgent need for precision genomic analysis in treating nano-rare patients, who represent extremely small patient populations of 1-30 individuals worldwide with limited treatment options.
Addressing Genomic Complexity in ASO Development
The collaboration leverages PacBio (搜索)'s HiFi long-read sequencing technology to overcome critical limitations in current genomic analysis approaches. ASO therapies (搜索) require comprehensive understanding of genomic architecture, including variant phasing, structural variation, repeat expansions, and regulatory alterations that are frequently missed or unresolved by standard sequencing methods.
"Rare disease therapies demand a level of genomic resolution that simply isn't achievable with fragmented testing approaches," said Christian Henry. "By working with n-Lorem and EspeRare (搜索) under the proposed collaboration, we aim to establish HiFi long-read whole genome sequencing as the preferred platform for precision therapeutic development in rare disease, where understanding the full complexity of the genome is essential to designing safe and effective interventions."
By integrating long-read whole-genome sequencing earlier in the therapeutic development process, the collaboration aims to reduce the need for multiple sequential tests, accelerate target validation, and improve confidence in ASO design.
Supporting Nano-Rare Patient Communities
The n-Lorem Foundation, founded by Stanley T. Crooke, M.D., Ph.D., former chairman and CEO of Ionis Pharmaceuticals (搜索), focuses on developing individualized ASO medicines for patients with genetic defects unique to only one or very few individuals. These short strands of modified DNA can specifically target transcripts of defective genes to correct abnormalities and offer advantages in rapid, inexpensive, and highly specific development.
"n-Lorem was founded to discover, develop, manufacture and provide experimental ASO treatments to patients with the rarest genetic mutations for free, for life," said Crooke. "To bring genetic medicines to patients with extremely rare genetic diseases, the first step is to understand the genomic architecture of each patient. PacBio (搜索)'s generous donation of long-read sequencing for many patients each year will enhance our ability to meet the extraordinary demand from the nano-rare community."
The foundation has demonstrated significant reach in the ultra-rare disease space, having received over 380 applications for treatment, approved more than 200 nano-rare patients, and currently treating more than 30 patients with experimental ASO therapies (搜索).
Translational Infrastructure and Patient Access
EspeRare (搜索), a Geneva-based nonprofit organization, brings complementary expertise in advancing therapies through strategic partnerships and translational infrastructure. The organization has spent a decade removing drug development barriers that prevent promising science from reaching historically overlooked patients, establishing itself as a pioneer in prenatal and personalized therapies for rare diseases.
"PacBio (搜索)'s long-read sequencing technology enables the level of genomic understanding required to guide care in rare diseases," said Caroline Kant, Executive Director of EspeRare (搜索). "Through the proposed collaboration we will be able to translate complex genomic information into therapies tailored to each patient's biology, bringing groundbreaking treatments to families who urgently need them."
Collaborative Framework and Resource Commitment
Under the proposed collaboration, PacBio (搜索) will donate sequencing reagents and provide expert scientific resources to support long-read genome analysis for research aimed at furthering therapeutic treatment development 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 therapeutic intervention development.
The partnership represents a comprehensive ecosystem spanning patient identification, molecular characterization, therapy development, and clinical implementation. As individualized and n-of-1 therapeutic models gain momentum across the biopharma industry, PacBio (搜索) aims to play a central role in supporting scalable, genomics-driven therapy development where complete and accurate genome characterization is foundational to developing treatment options.