APAC Rare Disease Consortium launched to advance genomic innovation and rare disease diagnosis
The International Nanopore Sequencing Partnership for Rare Disease Engagement (INSPIRE) Consortium has officially launched in Bangkok, Thailand, bringing together experts from Asia-Pacific (APAC) countries to address the critical challenge of delayed and unresolved diagnosis of rare diseases in the region.
This groundbreaking initiative is supported by Oxford Nanopore Technologies and aims to foster collaboration, build capacity, and leverage cutting-edge genomic tools to transform rare disease research and clinical practice.
Rare diseases, affecting an estimated 350 million people globally, often remain undiagnosed due to the complexity of genetic variants and the limitations of conventional diagnostic methods. In the APAC region, these challenges are amplified by underrepresentation in genomic research, limited access to region-specific variant databases, and disparities in access to cutting-edge sequencing technologies.
Recognising the urgent need for collaboration, the INSPIRE Consortium seeks to transform rare disease research and deliver clinical impact by leveraging insights from nanopore sequencing.
The INSPIRE vision: collaboration for change
The INSPIRE Consortium unites rare disease experts from eight APAC countries – China, Indonesia, Japan, Malaysia, New Zealand, Singapore, Taiwan and Thailand, to address these critical challenges. The initiative is built on the transformative potential of nanopore sequencing, a platform renowned for its ability to rapidly and comprehensively identify complex genetic variations. The founding principles are to share and spread knowledge, skills, capacity and capabilities and to unite in resolving existing knowledge gaps and challenges.
"Rare diseases pose significant diagnostic and treatment challenges, particularly in regions like APAC, where genetic diversity is vast and data representation remains limited," said Prof Vorasuk Shotelersuk, Chulalongkorn University, Thailand, and the inaugural Chair of the INSPIRE Steering Committee. "The INSPIRE Consortium represents a critical step forward, combining resources, expertise, and technology to bridge these gaps and deliver impactful solutions for patients."
Key outcomes of the INSPIRE launch
The INSPIRE consortium was launched in Bangkok, Thailand at an event bringing together leading genomic scientists, clinicians, and policymakers to discuss strategies for advancing rare disease diagnosis and research in the APAC region. The steering group consensus statement, developed during these discussions, highlighted the following priorities for the INSPIRE Consortium:
1. Collaborative working: Establishing a regional network to share genomic expertise and address the unique regional challenges of diagnosing rare genetic disorders. The first focus area will be on accelerating rapid sequencing in Neonatal Intensive Care Unit (NICU) and Paediatric Intensive Care Unit (PICU) settings and enhancing analytical approaches tailored to regional datasets.
2. Training and capacity building: Equipping healthcare professionals and researchers with the skills needed to utilise nanopore-based sequencing technologies. This involves identifying capability gaps and delivering hands-on training, workshops, knowledge and skills exchanges to build sustainable expertise.
3. Advancing rare disease diagnostics and research: Promoting the potential of long-read sequencing to detect previously uncharacterised genetic variations, refining analytical methods for complex genetic variants, and leveraging the APAC region's genetic diversity to drive innovative research and diagnostics.
"The INSPIRE Consortium represents a significant step forward for the APAC region," said Prof. Huijun Yuan, West China Hospital, China. "By fostering collaboration, building capacity, and advancing diagnostics, we aim to create equitable access to cutting-edge genomic solutions for rare disease patients across the region."
Supported by Oxford Nanopore Technologies, the consortium aims to deliver lasting impact by improving the diagnosis and management of rare diseases, promoting innovation, and addressing critical gaps in genomic research across the region.
Lightning talks by regional experts:
Prof. Justin M. O’Sullivan, University of Auckland, New Zealand shared his work in identifying rare diseases by acute care sequencing in New Zealand: “The ability to rapidly sequence an acutely ill child is a game changer for clinical care and will transform our approaches to research in rare diseases ”
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Prof. Ni-Chung Lee, National Taiwan University Hospital, Taiwan shared her Taiwan experiences in the application of long-read sequencing in rare diseases: “We look forward to a fast and comprehensive tool capable of deciphering various types of genomic variations in a single test. Oxford Nanopore Technologies shows great potential to achieve this”
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Prof. Vorasuk Shotelersuk, Chulalongkorn University, Thailand, shared his experience in using rapid long-read whole-genome sequencing for critically ill patients: "To save the lives of critically ill patients, it is essential to have a rapid, high-yield, and practical diagnostic tool…rapid long-read genome sequencing is the solution available today.”
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The event concluded with a tour of the Centre of Excellence for Medical Genomics at Chulalongkorn University, where participants observed the integration of long-read sequencing into clinical workflows, showcasing its transformative potential.
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INSPIRE launch ceremony, with APAC regional experts. The steering committee members includes Prof Justin O’Sullivan, Dr Chin Hui-Lin, Prof Yuan Hui-Jun, Prof Vorasuk Shotelersuk, Assoc Prof Saumya Jamuar, Prof Nina Chung, Prof. Rahman Jamal, and Prof Gunadi.
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