PacBio is supporting two research initiatives that use its HiFi long-read whole-genome sequencing technology to improve understanding of Sudden Unexplained Death in Childhood (SUDC) and advance individualized therapies for rare genetic diseases.

In the first project, a collaboration led by UW Medicine and Seattle Children’s Research Institute, with funding from the SUDC Foundation, will sequence 200 trios of families affected by SUDC. Each child and their parents will be sequenced on PacBio’s Revio system using SPRQ-Nx chemistry. The approach is intended to resolve complex variants, including structural variants and tandem repeats, while increasing diagnostic yield for families seeking answers.

Danny Miller, physician-scientist at Seattle Children’s Research Institute, said: “Selecting HiFi sequencing as our first-line whole-genome assay allows us to search for answers with the accuracy and breadth these families deserve. By starting with long reads and incorporating parental data we can better resolve difficult variants, phase them accurately, and offer appropriate recommendations to families relevant to SUDC.”

PacBio highlighted that using HiFi sequencing as a first-tier assay can simplify laboratory workflows, particularly when working with post-mortem tissue or newborn dried blood spots, while providing comprehensive genomic insight from the outset. The project will also join the HiFi Solves Global Consortium, a network of institutions exploring the clinical and research benefits of long-read sequencing.

Supporting the initiative, PacBio said its involvement reflects a commitment to advancing discovery in complex conditions. David Miller, global vice president of marketing at PacBio, added: “We’re honored to support this essential SUDC research. Making highly accurate long-read whole genomes the starting point can accelerate discovery and, ultimately, the path to better answers for families.”

The SUDC Foundation emphasised that the research prioritises actionable insights for families, noting that integrating scientific rigour with compassion is central to its mission.

Tina Yun Lee, CEO of the foundation, said: “Adopting HiFi sequencing as a first-line tool reflects a commitment to scientific rigor and compassion, two values that guide our mission to understand, predict, and one day prevent SUDC.”

In a separate initiative, PacBio is collaborating with the n-Lorem Foundation and EspeRare to advance individualized antisense oligonucleotide (ASO) therapies for ultra-rare genetic diseases. The collaboration will use long-read whole-genome sequencing to inform target validation, molecular characterisation, and ASO design, reducing the need for multiple sequential tests and increasing confidence in therapeutic development.

Christian Henry, CEO of PacBio, said: “Rare disease therapies demand a level of genomic resolution that simply isn’t achievable with fragmented testing approaches. By working with n-Lorem and EspeRare 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.”

The collaboration is designed to integrate PacBio’s sequencing technology with the patient identification, therapy development, and clinical implementation expertise of the two foundations.

Stanley Crooke, founder, chairman and CEO of n-Lorem Foundation, said: “PacBio’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. It exemplifies the heart of the therapeutic industry, and it adds to the generosity of so many companies in our industry that have stepped up to help n-Lorem do what seemed impossible six years ago.”

Caroline Kant, executive director of EspeRare, added: “PacBio’s long-read sequencing technology enables the level of genomic understanding required to guide care in rare diseases. Through the proposed collaboration we will be able to translate complex genomic information into therapies tailored to each patient’s biology, bringing treatments to families who urgently need them.”

Both initiatives demonstrate how long-read whole-genome sequencing is increasingly central to both research and clinical applications. By resolving complex variants, enabling accurate phasing, and integrating parental and patient data, PacBio aims to improve diagnostic and therapeutic outcomes across rare and unexplained conditions.