Programme
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 – 16:50
Petra Kinzlová, CEO, Prague.bio, Czech Republic
Brief welcome remarks
Brief welcome remarks
16:50 – 17:30
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”
17:30 – 17:40
Radislav Sedlacek, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“10 Years of CCP – Recognising the foundations of our success: Recognition Awards”
“10 Years of CCP – Recognising the foundations of our success: Recognition Awards”
17:40 – 19:00
Discussion & Networking
THURSDAY 10TH SEPTEMBER 2026
08:15 – 08:50
Registration
08:50 – 09:00
Radislav Sedlacek, 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
(Chairs: Danny Huylebroeck, Marián Hajdúch)
INFRAFRONTIER distinguished session: development of preclinical models: in vivo & complementary models
09:10 – 09:20
Michael Raess, INFRAFRONTIER ERIC, Germany
“Introduction to INFRAFRONTIER”
“Introduction to INFRAFRONTIER”
09:20 – 09:40
Guillaume Pavlovic, Institut Clinique de la Souris – PHENOMIN – IGBMC, France
“From robust genetic engineering to reliable phenotyping: lessons from rare disease mouse models”
“From robust genetic engineering to reliable phenotyping: lessons from rare disease mouse models”
09:40 – 10:00
Reetta Hinttala, University of Oulu, Finland
“A new disease model and therapeutic strategy for CLN8-associated neurodegeneration”
“A new disease model and therapeutic strategy for CLN8-associated neurodegeneration”
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
10:40 – 10:50
Marián Hajdúch, Institute of Molecular and Translational Medicine, Czech Republic
“Introduction to EATRIS”
“Introduction to EATRIS”
10:50 – 11:10
Marián Hajdúch, Institute of Molecular and Translational Medicine, Czech Republic
“Bridging Discovery and the Clinic: Translational Pathways for Rare-Disease Therapies”
“Bridging Discovery and the Clinic: Translational Pathways for Rare-Disease Therapies”
11:10 – 11:30
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”
11:30 – 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 Session 2 speakers
Session 3 – Models to understand and correct gene function in vivo II & therapeutic approaches
(Chair: Stanislav Kmoch)
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 Buchtová, Institute of Animal Physiology and Genetics of the Czech Academy of Sciences, Czech Republic
“Mechanisms and therapeutic modulation of renal cyst progression in jck mice”
“Mechanisms and therapeutic modulation of renal cyst progression in jck mice”
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
(Chair: Radislav Sedlacek)
16:20 – 16:50
Francisco J. Sánchez-Rivera, Koch Institute for Integrative Cancer Research at MIT, USA
“Defining and targeting gene-variant-context interactions in cancer”
“Defining and targeting gene-variant-context interactions in cancer”
16:50 – 17:20
Elizabeth Anabel Worthey, The University of Alabama at Birmingham, USA
“From diagnosis to mechanism to treatment: precision medicine in the post genomics era”
“From diagnosis to mechanism to treatment: precision medicine in the post genomics era”
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
(Chair: Reetta Hinttala)
08:45 – 09:15
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”
09:15 – 09:45
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”
09:45 – 10:15
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”
10:15 – 10:35
Coffee break
Session 6 – Short presentations: selected poster presentations & technology talks
(Chairs: Michaela Krausová, Berwini Beduya Endaya )
Flash oral presentations
10:35 – 10:45
Rebekah Tillotson, Institute of Genetics and Cancer, The Hospital for Sick Children, and Weatherall Institute of Molecular Medicine, Great Britain (Scotland)
“Using visible traits to determine whether crispant founder mice can be used for phenotypic assessment”
“Using visible traits to determine whether crispant founder mice can be used for phenotypic assessment”
10:45 – 10:55
Juan Antonio Aguilar-Pimentel, German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, Germany
“AI-driven integration of classical and spectral flow cytometry for immunophenotyping of mouse models”
“AI-driven integration of classical and spectral flow cytometry for immunophenotyping of mouse models”
10:55 – 11:05
Ania Kordala, Cure MFM13, USA/Poland
“The first partially humanized mouse model of myofibrillar myopathy type 13”
“The first partially humanized mouse model of myofibrillar myopathy type 13”
Technologies for animal models
11:05 – 11:20
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”
11:20 – 11:35
Shijia Teo, Bruker
“State of the art advances in preclinical MR imaging”
“State of the art advances in preclinical MR imaging”
11:35 – 11:50
Rafał Szelenberger, Bio-Rad s. r. o.
“Digital PCR in rare disease research: from diagnosis to therapy monitoring”
“Digital PCR in rare disease research: from diagnosis to therapy monitoring”
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
(Chair: Radislav Sedlacek)
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 | Chair: Jan Procházka)
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
“Why your research matters: life with a SPATA5 child from a family’s perspective”
Scientific speaker: Michaela Krausová, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Modelling Spata5 dysfunction: novel mouse strains and derived cellular models”
Patient representative speaker: Jan Zajíc, SPATA 5 CZ, Czech Republic
“Why your research matters: life with a SPATA5 child from a family’s perspective”
Scientific speaker: Michaela Krausová, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Modelling Spata5 dysfunction: novel mouse strains and derived cellular models”
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
“Asgent – turning patient advocacy into therapeutic development”
Scientific speaker: Miroslava Kolková, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Improved mouse models of Angelman syndrome enable preclinical evaluation of AAV-mediated Ube3a reactivation”
Foundation representative speaker: Radoslav Hajgajda, Association of Gene Therapy, Czech Republic
“Asgent – turning patient advocacy into therapeutic development”
Scientific speaker: Miroslava Kolková, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Improved mouse models of Angelman syndrome enable preclinical evaluation of AAV-mediated Ube3a reactivation”
16:15 – 16:40
FOUNDATION 3: ADSL deficiency: Rare Birds Foundation (www.rarebirdsfoundation.org)
Patient representative speaker: Nicole Lytle, Founder, Rare Birds Foundation
“Decoding patient voice when patients cannot speak: the caregiver role in therapeutic development for ADSL deficiency”
Scientific speaker: Marie Zikánová, Charles University in Prague, Institute of Inherited Metabolic Disorders, Czech Republic
“ADSL deficiency: from basic research to therapy development”
Patient representative speaker: Nicole Lytle, Founder, Rare Birds Foundation
“Decoding patient voice when patients cannot speak: the caregiver role in therapeutic development for ADSL deficiency”
Scientific speaker: Marie Zikánová, Charles University in Prague, Institute of Inherited Metabolic Disorders, Czech Republic
“ADSL deficiency: from basic research to therapy development”
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
“Therapeutic gene editing for cardiovascular and metabolic diseases”
Kiran Musunuru, Perelman School of Medicine at the University of Pennsylvania, USA
“Therapeutic gene editing for cardiovascular and metabolic diseases”
Closing
17:40 – 17:55
Radislav Sedlacek, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic