In this episode, I sit down with Prof. Christian Gilissen, a pioneer in genome bioinformatics, and Head of Bioinformatics at Radboud University Medical Center, to explore how long-read sequencing is revolutionizing the diagnosis of rare diseases. For patients who’ve endured years of uncertainty, this technology offers newfound hope by uncovering genetic variations previously invisible to traditional methods.

🔍 What We Discuss:

• 🧬 The Power of Long-Read Sequencing: Discover how reading DNA in 15,000+ base-pair fragments (vs. 150 in short-read) reveals 3-5x more structural variations, solving mysteries in repetitive or complex genomic regions.
• 🚀 From Lab to Clinic: Prof. Gilissen shares breakthroughs from his latest study and why his team is rolling out long-read diagnostics this year—replacing decades-old techniques.
• 💡 Beyond Genomics: The role of AI, multiomics (transcriptomics, epigenetics), and why equitable access to cutting-edge tech is critical for global health.
• ⚖️ Ethics & Challenges: Data privacy, cost barriers, and the policy shifts needed to make long-read sequencing a standard tool.

💬 Prof. Gilissen’s Vision:
“In five years, I believe most labs will abandon short-read sequencing. Long-reads aren’t just the future—they’re the now.”

📚 Dive Deeper:
Read my article “The New Frontier of Genomic Testing for Rare Diseases” ➡️ https://www.re-solveglobalhealth.com/post/the-new-frontier-of-genomic-testing-for-rare-diseases