Research into rare diseases is often associated with significant diagnostic challenges, especially when traditional sequencing methods fail to identify the genetic variants underlying a disease. This is particularly relevant for structural genome rearrangements, repetitive regions, and complex multiomic changes that may remain undetected using standard approaches.
Long-read sequencing opens new possibilities for more accurate genome analysis and helps researchers uncover answers even in cases that have remained undiagnosed for years.
To highlight modern approaches to rare disease research, Pacific Biosciences (PacBio) is organizing a free educational webinar:
“Filling the gaps in rare disease research with long-read sequencing: stories from undiagnosed cohorts”
Pacific Biosciences is an international biotechnology company recognized for its innovative high-accuracy sequencing solutions. PacBio’s HiFi sequencing technology combines highly accurate data with long reads, creating new opportunities for genomic and multiomic research.
The webinar will take place on May 21 at 6:00 PM (Kyiv time). During the session, experts will present practical cases demonstrating how HiFi sequencing can help solve complex diagnostic challenges in rare disease research.
The speakers include:
- Nina Gonzaludo, PhD — Global Clinical Lead for Rare Diseases at PacBio and webinar moderator;
- Ramakrishnan Rajagopalan, PhD — Director of Translational Bioinformatics at the Division of Genomic Diagnostics, Children’s Hospital of Philadelphia.
During the webinar, participants will be able to:
- understand the key advantages of long-read HiFi sequencing for rare disease research;
- learn from real-world examples how HiFi sequencing helps identify structural variants and multiomic changes underlying rare diseases;
- gain insights into how HiFi sequencing can integrate results from multiple analyses and support the implementation of modern genomic approaches in clinical and translational workflows.
Special attention will be given to real clinical cases from previously undiagnosed patient cohorts, where the use of HiFi sequencing helped identify the genetic causes of disease and provided new diagnostic insights.
Following the presentations, a live Q&A session will allow participants to ask questions and discuss practical aspects of applying long-read sequencing in rare disease research.
The webinar will be valuable for geneticists, molecular biologists, clinicians, researchers, bioinformaticians, and laboratory specialists working in genomic diagnostics and rare disease research.
Participation is free of charge upon prior registration.
Medical company Empirica supports educational initiatives of international partners and contributes to the implementation of modern genomic technologies in laboratory medicine practice in Ukraine.