Turning data into answers: Rare disease case studies from clinical researchers
In this webinar, hear from researchers on the potential to transform Oxford Nanopore sequencing data into critical insights for rare disease through advanced tertiary analysis.
Expert speakers from tertiary analysis platform Geneyx, Bambino Gesù Children’s Hospital (Rome, Italy), and North-West University (Potchefstroom, South Africa) will share their own best practices and case studies to demonstrate how nanopore sequencing and downstream analysis may help resolve complex genomic variation missed by other approaches.
Key learnings:
Understand how to analyse your Oxford Nanopore sequencing data with tertiary analysis platforms through an integrated workflow.
Explore case-based examples from Bambino Gesù Children’s Hospital showing the potential for nanopore sequencing to help resolve challenging rare disease cases, including the use of long reads for allelic phasing and the characterisation of structural variants.
Learn how Oxford Nanopore sequencing enabled researchers at North-West University identify a pathogenic deletion in a case of infantile Krabbe disease, bringing clarity where previous approaches had been inconclusive.
Register your details below to join us online on 30 April at 4pm (BST) / 8am (PDT) / 11am (EDT). The session will conclude with a live Q&A.
Meet the speakers
Cristina Gamba, Associate Director, Product Marketing, Oxford Nanopore TechnologiesCristina Gamba is the Associate Director of Product Marketing for Software and Informatics at Oxford Nanopore Technologies. With a background in genomics and bioinformatics, she focuses on translating advanced sequencing and analysis technologies into clear, accessible solutions for the research community. Cristina began her career leading genomic sequencing projects during her PhD and postdoctoral work before moving into industry roles across bioinformatics, product management, and product marketing. At Oxford Nanopore, she drives global strategies that shape how data analysis and informatics tools support scientific discovery across end to end genomic analysis solutions.
Chiara Passarelli, Genetic biologist, Bambino Gesù Children's Hospital Chiara Passarelli is a molecular biologist based at Bambino Gesù Children's Hospital in Rome, the city where she completed both her degree and PhD in Molecular Biology. She began her career as a researcher studying neuromuscular diseases, later specialising in medical genetics. For several years now, she has been working in the field of rare genetic diseases. Her work focuses on the application of Next-Generation Sequencing (NGS) technologies for diagnostic purposes, contributing to the identification and molecular characterisation of genetic disorders.
Maryke Schoonen, Nngwe Project Manager, North-West University, South AfricaDr Maryke Schoonen is a clinical and research scientist working at North-West University in Potchefstroom, South Africa. Her work focuses on rare diseases in South Africa, with a strong interest in improving access to genomic diagnostics in underserved populations. She contributes to genotype–phenotype correlations using whole genome sequencing (WGS) datasets and supports translational research, molecular testing, and variant interpretation. Dr Schoonen is actively involved in initiatives such as the Nngwe Programme, promoting equitable access to genomic medicine and collaborative research across clinical and laboratory settings.
Field Applications Scientist, GeneyxA member of the Geneyx field applications science team will join us to discuss how the Geneyx platform can be used to review Oxford Nanopore sequencing data. They will also be available to answer questions in the live Q&A.
