Programme
PRELIMINARY PROGRAMME
WEDNESDAY 9TH SEPTEMBER 2026
15:00 – 16:30
Registration
Opening + Session 1 – Models to understand gene function in vivo I
(Chair: Radislav Sedlacek)
16:30 – 16:45
Radislav Sedlacek, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Welcoming talk: “CCP – the gate to comprehensive description of gene functions”
Welcoming talk: “CCP – the gate to comprehensive description of gene functions”
16:45 – 17:25
KEYNOTE LECTURE:
Tim Bertram, NSF Regenerative Medicine Engine, USA
“Convergent cell and gene therapy strategies: translating scientific discovery to deliver commercial outcomes”
Tim Bertram, NSF Regenerative Medicine Engine, USA
“Convergent cell and gene therapy strategies: translating scientific discovery to deliver commercial outcomes”
17:25 – 19:00
Discussion & Networking
THURSDAY 10TH SEPTEMBER 2026
08:15 – 08:50
Registration
08:50 – 09:00
Radislav Sedláček, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Introduction to models of human disease: global, European, and Czech approaches”
“Introduction to models of human disease: global, European, and Czech approaches”
09:00 – 09:05
Brief welcome remarks by the Minister of Health, Adam Vojtěch
09:05 – 09:10
Welcome remarks by the President of the Czech Academy of Sciences, Radomír Pánek
Session 2 – Advanced in vivo and in vitro preclinical models
(Chair: TBA)
INFRAFRONTIER distinguished session: development of preclinical models: in vivo & complementary models
09:10 – 09:20
Johannes Beckers, Helmholtz Zentrum München, Germany
“Introduction to INFRAFRONTIER”
“Introduction to INFRAFRONTIER”
09:20 – 09:40
Radislav Sedláček, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“From standardized phenotyping pipeline to deep phenotyping: understanding SPINK5 functions to develop therapeutic approach”
“From standardized phenotyping pipeline to deep phenotyping: understanding SPINK5 functions to develop therapeutic approach”
09:40 – 10:00
Reetta Hinttala, University of Oulu, Finland
“CLN8-associated neurodegeneration: a new disease model and therapeutic strategy”
“CLN8-associated neurodegeneration: a new disease model and therapeutic strategy”
10:00 – 10:20
Heon Yung Gee, Yonsei University College of Medicine, Republic of Korea
“Therapeutic strategies for KCNQ4-associated hearing loss”
“Therapeutic strategies for KCNQ4-associated hearing loss”
10:20 – 10:40
Coffee break
EATRIS distinguished session (Chairs: TBA)
10:40 – 10:50
Introduction to EATRIS
10:50 – 11:10
Mariana Branco, CoLAB AccelBio, Portugal
“Human heart organoids: the next-generation model to study fibro-fatty remodeling in arrhythmogenic cardiomyopathy”
“Human heart organoids: the next-generation model to study fibro-fatty remodeling in arrhythmogenic cardiomyopathy”
11:10 – 11:30
Manoe J. Janssen, Radboud University Medical Center, The Netherlands
“Kidney organoid models for drug screening in rare diseases”
“Kidney organoid models for drug screening in rare diseases”
11:30 – 11:55
José Antonio Sánchez Alcázar, Centro Andaluz de Biología del Desarrollo-CABD, Universidad Pablo de Olavide, Spain
“Precision medicine in rare genetic diseases”
“Precision medicine in rare genetic diseases”
11:55 – 12:10
Discussion with speakers of the Session 2
Session 3 – Models to understand and correct gene function in vivo II: therapeutic approaches
(Chairs: TBA)
12:10 – 12:40
Anna Cereseto, University of Trento, Italy
“Genome editing technology development and therapeutic applications in cystic fibrosis”
“Genome editing technology development and therapeutic applications in cystic fibrosis”
12:40 – 13:10
Jaewhan Song, Underwood-Avison Institute of Science; Yonsei University College of Medicine, Republic of Korea
“Molecular crosstalk between cell death and metabolism in liver diseases”
“Molecular crosstalk between cell death and metabolism in liver diseases”
13:10 – 13:25
Discussion with speakers
13:25 – 14:45
Lunch break & Poster session 1 (on site)
14:45 – 15:15
Hans Tómas Björnsson, the Biomedical Center at the University of Iceland, Iceland & Johns Hopkins University, USA
“Defining therapeutic windows in histone methyltransferase disorders”
“Defining therapeutic windows in histone methyltransferase disorders”
15:15 – 15:45
Marcela Buchtova, Institute of Analytical Chemistry of the Czech Academy of Sciences, Czech Republic
Title: TBA
Title: TBA
15:45 – 16:00
Discussion with speakers
16:00 – 16:20
Coffee break
Session 4 – From genotype to phenotype: to understand gene function and disease informatics
(Chairs: TBA)
16:20 – 16:50
Francisco J. Sánchez Rivera, Koch Institute for Integrative Cancer Research at MIT, USA
“Computational prediction of human genetic variants in the mouse genome”
“Computational prediction of human genetic variants in the mouse genome”
16:50 – 17:20
Speaker: TBA
Title: TBA
Title: TBA
17:20 – 18:00
KEYNOTE LECTURE:
Stanley T. Crooke, n-Lorem Foundation & Ionis Pharmaceuticals, USA
“Responding to nano-rare diseases: the n-Lorem approach”
Stanley T. Crooke, n-Lorem Foundation & Ionis Pharmaceuticals, USA
“Responding to nano-rare diseases: the n-Lorem approach”
19:00 – 22:00
Networking & Social dinner (www.ccp-conference.cz/social-dinner/)
FRIDAY 11TH SEPTEMBER 2026
Session 5 – Models to understand gene function as a basis for therapy development I
09:00 – 09:30
Mariah Lelos, Cardiff University, United Kingdom
“Cognitive phenotyping and use of GABAA modulators in a mouse model of Huntington’s disease”
“Cognitive phenotyping and use of GABAA modulators in a mouse model of Huntington’s disease”
09:30 – 10:00
Kotaro Nakanishi, The Ohio State University, USA
“CityRNAs selectively silence mutant alleles with single-nucleotide variants”
“CityRNAs selectively silence mutant alleles with single-nucleotide variants”
10:00 – 10:30
Markus A. Rüegg, Biozentrum, University of Basel, Switzerland
“From understanding LAMA2-related muscular dystrophy to innovative AAV gene therapy”
“From understanding LAMA2-related muscular dystrophy to innovative AAV gene therapy”
Session 6 – Short presentations: selected poster presentations & technology talks
Flash oral presentations
10:50 – 11:00
Speaker 1 – to be selected
11:00 – 11:10
Speaker 2 – to be selected
11:10 – 11:20
Speaker 3 – to be selected
Technologies for animal models
11:20 – 11:35
Viktoriya Sokolova, Milabs, CANBERRA-PACKARD s. r. o.
“Multimodal preclinical imaging across scales: integrating PET, SPECT, CT and optical imaging for translational research”
“Multimodal preclinical imaging across scales: integrating PET, SPECT, CT and optical imaging for translational research”
11:35 – 11:50
Speaker: TBA
Title: TBA
Title: TBA
11:50 – 13:15
Lunch break & Poster session 2 (on site)
Session 7 – Models to understand gene function as a basis for therapy development II
13:15 – 13:45
Carlo Rivolta, Institute of Molecular and Clinical Ophthalmology Basel (IOB) / University of Basel, Switzerland
“Molecular genetics of inherited retinal diseases: functional insights from gene discovery”
“Molecular genetics of inherited retinal diseases: functional insights from gene discovery”
13:45 – 14:15
David Staněk, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Characterization and targeted rescue of a novel PRPF31 mutation in retinitis pigmentosa”
“Characterization and targeted rescue of a novel PRPF31 mutation in retinitis pigmentosa”
14:15 – 14:35
Discussion with speakers
14:35 – 14:55
Coffee break
Session 8 – Rare diseases & bottom-up efforts to develop (gene) therapies
(patient & research session)
14:55 – 15:25
Barbara Vona, University Medical Center Göttingen, Germany
“Genetic aspects of Spata5/Spata5L1 disorders”
“Genetic aspects of Spata5/Spata5L1 disorders”
15:25 – 15:50
FOUNDATION 1: SPATA5: SPATA 5 CZ z.s. (www.zazracnedeti.cz)
Patient representative speaker: Jan Zajíc, SPATA 5 CZ, Czech Republic
Title: TBA
Scientific speaker: Michaela Krausová, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Title: TBA
Patient representative speaker: Jan Zajíc, SPATA 5 CZ, Czech Republic
Title: TBA
Scientific speaker: Michaela Krausová, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Title: TBA
15:50 – 16:15
FOUNDATION 2: Angelman syndrome: Association of Gene Therapy (https://asgent.org)
Foundation representative speaker: Radoslav Hajgajda, Association of Gene Therapy, Czech Republic
Scientific speaker: Miroslava Kolková, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“New mouse models, their characterisation and testing gene therapy”
Foundation representative speaker: Radoslav Hajgajda, Association of Gene Therapy, Czech Republic
Scientific speaker: Miroslava Kolková, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“New mouse models, their characterisation and testing gene therapy”
16:15 – 16:40
FOUNDATION 3: Prader-Willi syndrome: Epigenteo Foundation (https://epigenteo.cz/en/)
Patient representative speaker: Kateřina Goldsteinová, Epigenteo Foundation, Czech Republic
Title: TBA
Scientific speaker: Jan Procházka, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Title: TBA
Patient representative speaker: Kateřina Goldsteinová, Epigenteo Foundation, Czech Republic
Title: TBA
Scientific speaker: Jan Procházka, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Title: TBA
16:40 – 16:55
Discussion with speakers
16:55 – 17:40
KEYNOTE LECTURE:
Kiran Musunuru, Perelman School of Medicine at the University of Pennsylvania, USA
“Developing and deploying personalized gene-editing therapies”
Kiran Musunuru, Perelman School of Medicine at the University of Pennsylvania, USA
“Developing and deploying personalized gene-editing therapies”
Closing
17:40 – 17:55
Radislav Sedlacek, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic