Bridging the Gap Between Genes and Therapy

Highlights from the 2025 CCP Phenogenomics Conference

The historic city of Prague once again became the epicenter of functional genomics this September, as the Czech Centre for Phenogenomics (CCP) hosted its 7th annual Phenogenomics Conference. Held on September 11–12, 2025, the event brought together a diverse international community of scientists, and clinicians, to discuss the latest breakthroughs in rare genetic diseases, experimental disease models, and the rapidly evolving field of gene therapy.

Under the theme “For Users, With Users,” the conference reinforced CCP’s role not just as a service provider, but as a strategic hub for collaborative discovery. The 2025 edition was particularly notable for its strong focus on translational medicine, moving beyond basic understanding of gene function to the practical application of therapies for untreated conditions.

A Star-Studded Lineup

The scientific program was anchored by a series of compelling keynote and featured lectures from globally recognized pioneers in biomedicine.

Prof. Gary Peltz from Stanford University (USA) delivered a highly anticipated keynote on “Computational Genetic and Humanized Mouse Models for Discovery.” Prof. Peltz is renowned for his work in immunogenetics and for developing advanced murine models that can mimic human immune responses and liver functions. His lecture underscored how integrated pipelines that combine deep phenotyping, sophisticated mouse models and AI‑driven analysis can identify new therapeutic targets and de‑risk clinical development, resonating strongly with CCP’s own strategy in preclinical testing. Another major highlight was the lecture by Prof. Frank Buchholz from the Technical University Dresden (Germany). A leader in the field of genome editing, Prof. Buchholz presented his groundbreaking work on “Precision Genome Surgery.” His research focuses on recombinase-based gene editing, a technology that offers a potentially safer and more precise alternative to CRISPR for correcting genetic defects. His presentation offered a glimpse into the future of permanent cures for monogenic diseases.

Yann Herault from the Institute of Genetics and Molecular and Cellular Biology (IGBMC, France) provided crucial insights into “Genetic Engineering and Modelling of Human Diseases.” As a key figure in the European mouse genetics community, Herault discussed the increasing sophistication of rodent models, particularly in the context of neurodevelopmental disorders such as Down syndrome, emphasizing the need for standardized, high-quality phenotyping to ensure reproducible results.

Expanding the Horizons of Rare Disease Research

The conference also featured a robust series of talks dedicated to specific rare disease mechanisms and therapeutic strategies.

Gopal Sapkota (MRC PPU, University of Dundee, UK) presented on the “PAWS1/FAM83G” pathway, shedding light on how disruptions in specific signalling proteins can lead to complex developmental disorders like palmoplantar keratoderma. Another keynote highlight was the lecture of Timothy W. Yu (Boston Children’s Hospital and Harvard Medical School, USA), a global pioneer in individualized, “N‑of‑1” therapies for rare neurogenetic disorders. Yu is widely known for leading the development of a patient‑customized antisense oligonucleotide (ASO) designed for a single child with CLN7 Batten disease, where his team moved from genetic diagnosis to a bespoke ASO therapy and first dosing within roughly one year, with a documented reduction in seizure burden. In his 2025 CCP keynote, he placed this case within a broader framework of gene‑targeted therapies for rare diseases, discussing both the immense potential of ASOs and other sequence‑specific platforms and the regulatory, ethical and economic challenges of making individualized treatments accessible and sustainable at scale.

A Commitment to the Future

Beyond the lectures, the conference served as a vital networking platform. The “RD-Factory” initiative, the CCP’s strategic program for solving rare disease, was a central topic of discussion, with researchers exploring new ways to integrate patient-derived data with animal modelling. The 2025 CCP Phenogenomics Conference demonstrated that the field is moving at an accelerated pace. By combining the power of advanced genetic engineering, presented by speakers like Buchholz and Herault, with the translational insights of experts like Peltz, the community is closer than ever to turning genetic maps into medical cures.

For more details on the program and abstracts, visit the conference archive at www.ccp-conference.cz.