8th CCP Phenogenomics Conference: From Gene Function to Precision Therapies

The 8th CCP Phenogenomics Conference brought together leading scientists, clinicians, patient representatives and industry experts to explore how advanced disease models, functional genomics and innovative therapeutic approaches can translate scientific discoveries into meaningful outcomes for patients. Held in Prague on 9–11 September 2026 as part of CCP’s 10th anniversary celebrations, the three-day conference welcomed 266 participants and 39 speakers from the Czech Republic and beyond.

The conference, which also marked the 10th anniversary of CCP, brought together researchers, clinicians, patient representatives, industry experts and other stakeholders to explore the latest advances in phenogenomics, disease modelling and the development of innovative therapies for rare and genetic diseases.

With 266 participants, including 194 onsite attendees, and 39 speakers, the conference provided three days of intensive scientific exchange, discussion and networking, bringing together expertise from across Europe and beyond.

The conference was opened on Wednesday by the director of CCP Radislav Sedláček, followed by opening remarks from Petra Kinzlová, CEO of Prague.bio. The keynote speaker, Tim Bertram, CEO of Digitalis Commons, provided an inspiring conclusion to the evening with his inspiring and thought-provoking lecture: “Convergent Cell and Gene Therapy Strategies: Translating Scientific Discovery to Deliver Commercial Outcomes.”
His talk explored the critical decisions that determine whether a promising technology can successfully make the journey from the laboratory to clinical development and, ultimately, to real-world impact.

A great start to a day full of inspiring science began on Thursday with a video message from Adam Vojtěch, Minister of Health of the Czech Republic, followed by opening remarks from Radomír Pánek, President of the Czech Academy of Sciences.
We greatly appreciate their support and recognition of the importance of biomedical research, advanced research infrastructures and translational science.

From advanced models to precision therapies

The scientific programme highlighted the increasingly important role of sophisticated experimental models in understanding disease mechanisms and developing new treatments.

The INFRAFRONTIER Distinguished Session focused on robust model generation and reliable phenotyping. Guillaume Pavlovic highlighted the importance of rigorous genetic engineering and model validation for reproducible rare-disease research, while Reetta Hinttala presented a new CLN8 disease model linking impaired lipid metabolism to neurodegeneration and demonstrating proof-of-concept for a targeted therapeutic strategy. Heon Yung Gee showed how CRISPR/Cas9 allele disruption combined with allele-preferential antisense oligonucleotides (ASOs) can restore auditory function in a model of KCNQ4-associated hearing loss.

The EATRIS Distinguished Session then addressed the translation of experimental findings towards patient benefit. Mariana Branco presented human heart organoids modelling key features of arrhythmogenic cardiomyopathy, while José Antonio Sánchez Alcázar demonstrated how understanding the response of a patient’s pathogenic variant to different therapeutic options can support personalised treatment strategies.

Together, the presentations reinforced a central message of the conference: the right experimental model can provide the bridge between understanding disease mechanisms and developing therapies that reach patients.

Understanding and correcting gene function

The conference also showcased how advances in genome engineering and disease modelling are opening new opportunities for therapeutic intervention.

Anna Cereseto presented next-generation genome-editing approaches aimed at overcoming current barriers to clinical translation in cystic fibrosis. Jaewhan Song explored the molecular links between cell death, metabolism and chronic liver disease using genetically engineered mouse models.

Hans Tómas Björnsson addressed the critical question of when treatment can still modify disease progression, presenting therapeutic rescue in both postnatal and prenatal models of histone methyltransferase disorders. Marcela Buchtová presented new findings on the earliest stages of renal cyst formation, showing that molecular changes can precede visible cyst development and that early modulation of FGF signalling can reduce cyst burden.

These studies demonstrated the importance of understanding when, where and how gene function becomes disrupted as a foundation for designing targeted interventions.

From genotype to phenotype – and from diagnosis to treatment

Another major focus of the programme was the connection between genetic variation, disease mechanisms and therapeutic development.

Francisco J. Sánchez-Rivera from the Koch Institute for Integrative Cancer Research at MIT explored gene–variant–context interactions in cancer, emphasising that the effects of genetic variants must be understood within their biological environment. Elizabeth Anabel Worthey demonstrated how genomics, multi-omics and phenotype-driven analyses can help move precision medicine beyond diagnosis towards understanding disease mechanisms and therapeutic opportunities.

The programme culminated in a keynote by Stanley T. Crooke, Founder, Chairman and CEO of the n-Lorem Foundation, who presented the n-Lorem approach to nano-rare diseases. His talk highlighted a fundamentally different model of drug development: creating personalised antisense oligonucleotide therapies for patients with pathogenic nano-rare mutations and providing these treatments free of charge for life.

His keynote offered a particularly powerful illustration of precision medicine: from genotype, through phenotype and disease mechanism, all the way to a therapy designed for an individual patient.

Gene function, disease modelling and innovative therapies

Friday’s scientific sessions continued to explore the path from basic biological understanding to targeted treatment.

Mariah Lelos presented cognitive phenotyping in a mouse model of Huntington’s disease, showing that cognitive and motivational deficits may precede motor symptoms. Kotaro Nakanishi introduced cityRNAs, a new class of guide RNAs designed to selectively silence mutant alleles carrying single-nucleotide variants while sparing the corresponding wild-type alleles.

Markus A. Rüegg demonstrated how disease models of LAMA2-related muscular dystrophy can support the development of innovative AAV-based therapeutic strategies, including approaches capable of achieving substantial phenotypic rescue even at advanced stages of disease.

Session 7, chaired by CCP Director Radislav Sedláček, focused on translating discoveries in human genetics into therapeutic opportunities. Carlo Rivolta discussed the genetic and functional diversity of inherited retinal diseases, while David Staněk presented the functional characterisation of a novel PRPF31 mutation and an ASO-based approach capable of correcting abnormal splicing in patient-derived models.

Giving young scientists and new technologies a stage

The conference also provided space for emerging researchers through Flash Oral Presentations, selected from submitted posters. Young scientists presented work ranging from CRISPR founder mice and AI-supported immunophenotyping to a partially humanised mouse model for the ultra-rare disease MFM13.

The Technology Talks complemented the scientific programme with a practical perspective on technologies supporting advanced preclinical research. Viktoriya Sokolova presented multimodal PET, SPECT, CT and optical imaging; Shijia Teo introduced advances in high-resolution and multiparametric preclinical MRI; and Rafał Szelenberger highlighted applications of digital PCR in rare disease research, gene therapy development and treatment monitoring.

Together, these contributions demonstrated how innovative technologies are strengthening phenotyping, disease modelling and the translation of research findings towards new therapies.

When patients and researchers work together

One of the most important and particularly meaningful parts of the conference was Session 8 – Rare Diseases & Bottom-Up Efforts to Develop (Gene) Therapies, dedicated to collaboration between patients, families, patient organisations, foundations and researchers.

The session presented concrete examples of how patient engagement can directly contribute to therapeutic development. Barbara Vona presented new insights into SPATA5/SPATA5L1 disorders, followed by the family perspective from Jan Zajíc and disease modelling work by Michaela Krausová at CCP.

In Angelman syndrome, Radoslav Hajgajda demonstrated how patient advocacy can help drive therapeutic development, complemented by Miroslava Kolková‘s work on improved mouse models for preclinical AAV-based therapy.

The session also highlighted the essential role of caregivers in ADSL deficiency, with Nicole Lytle representing patients who cannot speak for themselves. Marie Zikánová then presented the long journey from decades of basic research and patient samples to disease models and ongoing AAV9 gene-replacement studies.

The session offered a strong reminder that patients are not only the ultimate beneficiaries of biomedical research – they can also be active partners in shaping its direction and accelerating the search for effective therapies.

Looking towards the future of precision medicine

The conference concluded with a keynote by Kiran Musunuru from the University of Pennsylvania, who presented advances in therapeutic gene editing for cardiovascular and metabolic diseases, including personalised gene-editing approaches.

His presentation provided a fitting conclusion to three days focused on the journey from genetic variation and disease mechanisms to experimental models, therapeutic development and, ultimately, patients.

The 8th CCP Phenogenomics Conference demonstrated the breadth and speed of progress in phenogenomics and translational biomedical research. At the same time, it highlighted the importance of collaboration – across disciplines, institutions and countries, and especially between researchers and the patients and families whose needs ultimately define the purpose of this work.

From gene function to disease mechanisms. From models to therapies. From research to patients.

This is the direction in which phenogenomics and precision medicine are moving and CCP is proud to be part of this journey.

A shared commitment to bringing science closer to patients

The 8th CCP Phenogenomics Conference was more than a showcase of scientific progress. It was an opportunity to connect different perspectives and disciplines around a shared goal: to better understand disease, develop more precise therapies and ultimately improve the lives of patients.

The discussions throughout the three days demonstrated how closely fundamental research, advanced experimental models, genome engineering, bioinformatics, translational research and patient engagement are becoming interconnected.

As CCP celebrates 10 years of building expertise, technologies and partnerships in phenogenomics, the conference also provided an opportunity to look ahead. The challenges of rare and genetic diseases require collaboration across traditional boundaries – and the conference showed the impact that can be achieved when researchers, clinicians, industry and, most importantly, patients and their families work together.

Thank you to all speakers, participants, patient representatives, partners, sponsors and supporters who made the 8th CCP Phenogenomics Conference a truly inspiring and memorable event.

We look forward to continuing this journey together – from gene function to disease mechanisms, from experimental models to therapies, and from research to patients.

8th CCP Phenogenomics Conference – in numbers:

266 participants
194 onsite participants
39 speakers
3 days of scientific exchange
10 years of the Czech Centre for Phenogenomics