International Nanopore Sequencing Partnership Launches to Tackle Rare Disease Diagnostics in Asia-Pacific

Bangkok, Thailand — January 16, 2025: The International Nanopore Sequencing Partnership for Rare Disease Engagement (INSPIRE) Consortium was officially announced today at the Pullman Bangkok King Power Hotel. This groundbreaking initiative will use cutting-edge long-read nanopore sequencing technology to transform the diagnosis and research of paediatric rare genetic disorders across the Asia-Pacific (APAC) region.

The event, held as part of Nanopore Day (What You’re Missing Matters), brought together prominent experts in rare diseases and genomics. The agenda featured an INSPIRE Forum Discussion led by the Steering Committee Members, followed by a series of engaging lightning talks from global and regional leaders.  Malaysia was represented by Prof. Datuk Dr. A Rahman A Jamal who is the Principal Research Fellow from UKM Medical Molecular Biology institute (UMBI). Others include Prof. Justin O’Sullivan (New Zealand), Prof. Ni-Chung Lee (Taiwan), and Prof. Vorasuk Shotelersuk (Thailand).

The consortium launch was marked by a comprehensive discussion of its vision and collaborative framework, which aims to establish a regional network of hospitals, research centres, and genetic labs. Highlighting the day’s schedule was a guided tour of the Center of Excellence for Medical Genomics at Chulalongkorn Hospital, emphasizing real-world applications of genomic sequencing for rare disease diagnosis.

The INSPIRE Consortium’s objectives include training healthcare professionals, advancing research into APAC-specific genetic conditions, and developing region-specific databases. Its long-term vision includes publishing collaborative research, influencing genomic policy, and building sustainable models for diagnosing rare diseases.

The event concluded with a VIP dinner, signifying the beginning of an ambitious journey to revolutionize rare disease care in the APAC region through partnership and innovation.

Bacaan lanjut:

APAC Rare Disease Consortium launched to advance genomic innovation and rare disease diagnosis