Societa Italiana di Genetica Umana (SIGU) 2026
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Organised by the Società Italiana di Genetica Umana (SIGU), this annual landmark event focuses heavily on in-depth scientific updates on rare diseases, gender-based medicine, RNA research, and new clinical diagnostic strategies. The target audience are Biologists, medical surgeons, and biomedical laboratory technicians. The congress is included in the national Continuing Medical Education (ECM) training program, awarding professional credits.
Oxford Nanopore will be exhibiting at SIGU 2026.
We will also host a presentation; "Clarity without compromise with Oxford Nanopore Technologies"'.
Speakers, presentation details and registration below. Please register to save your seat.
Please also visit us at Booth 39.
Agenda
Agenda (subject to change) | ||
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Welcome and Introduction | Angelica Vittori, Executive Account Manager | Oxford Nanopore Technologies |
Whole-Genome Sequencing (WGS) Using Oxford Nanopore Technologies (ONT) and Rare Diseases: Prospects and Applications for Clinical Diagnostics | Dr. Chiara Perrone | Bambino Gesù Children's Hospital |
Long read genomes for enhanced characterization of complex genomic regions involver in disease mechanism | Dr Tommaso Pippucci | IRCCS Azienda Ospedaliero-Universitaria di Bologna |
Speakers
The study of rare genetic diseases currently relies on the use of multiple laboratory techniques, each of which is able to investigate a single aspect of a highly complex biological reality. However, this approach is relatively inefficient, as it is still associated with high costs and does not provide the comprehensive overview that is often required to solve complex diagnostic cases. In recent years, the development of increasingly advanced technologies has led to the identification of numerous disease-causing genes and previously undetectable genetic variants, laying the foundation for a deeper understanding of the biological mechanisms underlying many genetic disorders. At the Medical Genetics Laboratory of our hospital, we are developing an integrated multi-omics approach for the study of complex rare diseases, with the aim of improving both their diagnosis and molecular characterization. Next-generation sequencing (NGS) technologies, particularly Whole Exome Sequencing (WES), are primarily used for the diagnosis of patients with clinically unresolved rare diseases. Over the past few years, the diagnostic yield of these techniques has increased from approximately 30–40% to the current 65–70%. Additional diagnostic information can be obtained through Whole Genome Sequencing (WGS), epigenomic profiling (methylome analysis), and other functional genomic approaches. However, these methods involve greater complexity in data interpretation and higher costs. Long-read sequencing using Oxford Nanopore Technologies (ONT) enables a more comprehensive characterization of the genome by generating long DNA reads, thereby facilitating the simultaneous detection of structural rearrangements and single-nucleotide variants within the same experiment. Although data generated by these emerging technologies still require validation using standardized methods, we are confident that they will soon become part of the routine diagnostic workflow in highly specialized laboratories, serving as a key tool for genetic and molecular analyses. Thanks to long-read sequencing with Oxford Nanopore Technologies, we have successfully resolved several complex cases, providing valuable support for both research and molecular diagnostics. The integration of state-of-the-art genomic technologies represents a significant innovation not only in diagnostics and research but also in the clinical management of patients with complex genetic diseases.
The study of rare genetic diseases currently relies on the use of multiple laboratory techniques, each of which is able to investigate a single aspect of a highly complex biological reality. However, this approach is relatively inefficient, as it is still associated with high costs and does not provide the comprehensive overview that is often required to solve complex diagnostic cases. In recent years, the development of increasingly advanced technologies has led to the identification of numerous disease-causing genes and previously undetectable genetic variants, laying the foundation for a deeper understanding of the biological mechanisms underlying many genetic disorders. At the Medical Genetics Laboratory of our hospital, we are developing an integrated multi-omics approach for the study of complex rare diseases, with the aim of improving both their diagnosis and molecular characterization. Next-generation sequencing (NGS) technologies, particularly Whole Exome Sequencing (WES), are primarily used for the diagnosis of patients with clinically unresolved rare diseases. Over the past few years, the diagnostic yield of these techniques has increased from approximately 30–40% to the current 65–70%. Additional diagnostic information can be obtained through Whole Genome Sequencing (WGS), epigenomic profiling (methylome analysis), and other functional genomic approaches. However, these methods involve greater complexity in data interpretation and higher costs. Long-read sequencing using Oxford Nanopore Technologies (ONT) enables a more comprehensive characterization of the genome by generating long DNA reads, thereby facilitating the simultaneous detection of structural rearrangements and single-nucleotide variants within the same experiment. Although data generated by these emerging technologies still require validation using standardized methods, we are confident that they will soon become part of the routine diagnostic workflow in highly specialized laboratories, serving as a key tool for genetic and molecular analyses. Thanks to long-read sequencing with Oxford Nanopore Technologies, we have successfully resolved several complex cases, providing valuable support for both research and molecular diagnostics. The integration of state-of-the-art genomic technologies represents a significant innovation not only in diagnostics and research but also in the clinical management of patients with complex genetic diseases.
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Chiara Perrone, Scientist / Researcher , Bambino Gesù Children's Hospital Despite significant advances in sequencing approaches, a substantial proportion of patients remain only partially characterized at the molecular level after routine genomic testing. Although short-read whole-genome sequencing has considerably improved the identification of single nucleotide variants and copy number alterations, it still shows limited sensitivity for detecting structural variants (SVs), repetitive sequences, complex chromosomal rearrangements and alterations affecting non-coding regulatory regions. Moreover, conventional sequencing approaches cannot directly assess DNA methylation, an increasingly recognized source of information to identifica hallmark pathological processes Long-read sequencing (LRS) has the potential to overcome these limitations by simultaneously detecting genomic and epigenomic alterations from native DNA molecules, enabling a more comprehensive characterization of disease genomes.
LRS is a promising strategy to improve the molecular characterization of genomic disorders and identify clinically relevant alterations that remain undetected or incompletely resolved by current diagnostic approaches. Particular informational gain is expected for complex structural variants, chromosomal rearrangements, repeat-associated events, non-coding regulatory alterations and DNA methylation abnormalities that contribute to disease course, severità and molecular classification, with additional improvement likely obtained by LRS-enabled tools as pangenome-aware analyses for enhanced variant discovery in highly polymorphic or poorly represented genomic regions.
Despite significant advances in sequencing approaches, a substantial proportion of patients remain only partially characterized at the molecular level after routine genomic testing. Although short-read whole-genome sequencing has considerably improved the identification of single nucleotide variants and copy number alterations, it still shows limited sensitivity for detecting structural variants (SVs), repetitive sequences, complex chromosomal rearrangements and alterations affecting non-coding regulatory regions. Moreover, conventional sequencing approaches cannot directly assess DNA methylation, an increasingly recognized source of information to identifica hallmark pathological processes Long-read sequencing (LRS) has the potential to overcome these limitations by simultaneously detecting genomic and epigenomic alterations from native DNA molecules, enabling a more comprehensive characterization of disease genomes.
LRS is a promising strategy to improve the molecular characterization of genomic disorders and identify clinically relevant alterations that remain undetected or incompletely resolved by current diagnostic approaches. Particular informational gain is expected for complex structural variants, chromosomal rearrangements, repeat-associated events, non-coding regulatory alterations and DNA methylation abnormalities that contribute to disease course, severità and molecular classification, with additional improvement likely obtained by LRS-enabled tools as pangenome-aware analyses for enhanced variant discovery in highly polymorphic or poorly represented genomic regions.
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Tommaso Pippucci, Scientist / Researcher , IRCCS Azienda Ospedaliero-Universitaria di Bologna
