By Diagnostics World Staff
February 17, 2026 | PacBio has announced several rare disease genomics programs so far this year. The most recent partner organizations include iHope, N-Lorem, EspeRare, UW Medicine, and Seattle Children’s Hospital.
The partnerships, along with the HiFi Solves Consortium that PacBio announced in 2023 and that CEO Christian Henry reiterated this January at the J.P. Morgan Healthcare Conference, reinforce PacBio’s commitment to long-read sequencing in rare disease diagnosis.
Several of the partnerships are centered on antisense oligonucleotide (ASO) therapies, which 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, PacBio and its partners aim to reduce the need for multiple sequential tests, accelerate target validation, and improve confidence in ASO design.
As individualized and n-of-1 therapeutic models gain momentum across the biopharma industry, PacBio 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.
iHope Global Rare Disease Genomics Program
The most recent announcement is a collaboration with iHope, a global rare disease genomics program of Genetic Alliance, to integrate PacBio’s HiFi long-read whole-genome sequencing into iHope’s international network.
iHope operates the world’s largest equitable rare-disease genomic testing network, supporting more than 1,000 patients annually through 25 clinical sites across 14 countries. The program is designed to enable collaborative, multi-technology support for rare disease patients, bringing together diverse approaches and clinical expertise to address the biological complexity of rare genetic disorders. The addition of PacBio’s HiFi long-read whole-genome sequencing aims to expand the range of genomic insights available across the network, providing data that supports iHope’s mission to ultimately drive more diagnostic clarity and support future research into precision therapeutic approaches, including antisense oligonucleotide (ASO)–based strategies.
n-Lorem Foundation and EspeRare ASO
Last month, PacBio proposed two other antisense oligonucleotide collaborations with the n-Lorem Foundation and EspeRare. PacBio hopes to use long read sequencing in the development of individualized ASO therapies for ultra-rare genetic diseases.
The proposed collaboration will use 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.
PacBio plans to 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.
UW Medicine, Seattle Children’s Sudden Unexplained Death Research Project
Also last month PacBio announced that a UW Medicine and Seattle Children’s research effort led by Danny Miller, MD, PhD, and Alexandra Keefe, MD, PhD, will employ PacBio HiFi whole-genome sequencing as the first-line approach to investigate Sudden Unexplained Death in Childhood (SUDC). Backed by the SUDC Foundation and with in-kind support from PacBio, the project will sequence each child and their parents, prioritizing long-read HiFi data for comprehensive variant detection. Additionally, the University of Washington team will join the HiFi Solves Global Consortium, which brings together institutions around the world to study the value HiFi-based human genome sequencing may have in clinical research applications and to further our understanding of genetic diseases.