Programme
THURSDAY 11TH SEPTEMBER 2025
08:15 – 09:00
Registration
Opening + Session 1 – Models to understand gene function in vivo I
(Chair: Radislav Sedlacek)
09:00 – 09:15
Radislav Sedlacek, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Welcoming talk: “CCP in 2024-2025 and developing the ‘RD-factory’ program”
Welcoming talk: “CCP in 2024-2025 and developing the ‘RD-factory’ program”
09:15 – 09:50
Yann Herault, Institute of Genetics and Molecular and Cellular Biology, France
“Models to understand gene function in vivo: CNS and disease”
“Models to understand gene function in vivo: CNS and disease”
09:50 – 10:20
Alessandra Biffi, University of Padova and Padova University Hospital, Italy
“HSC gene therapy applications in nervous system disorders: from neurometabolic diseases to adult onset dementias”
“HSC gene therapy applications in nervous system disorders: from neurometabolic diseases to adult onset dementias”
10:20 – 10:35
Shijia Teo
“More than just pretty pictures: Preclinical imaging of in-vivo (animal) and ex-vivo (post-mortem human brain) models”
“More than just pretty pictures: Preclinical imaging of in-vivo (animal) and ex-vivo (post-mortem human brain) models”
10:35 – 10:50
Discussion with speakers
10:50 – 11:15
Coffee break
Session 2 – Models to understand gene function in vivo II
(Chair: Yann Herault)
11:15 – 11:45
Dierk Niessing, Helmholtz Zentrum München and Ulm University, Molecular Target and Therapy Center, Germany
“PURA syndrome – a rare neurodevelopmental disorder”
“PURA syndrome – a rare neurodevelopmental disorder”
11:45 – 12:15
Kyuhyung Kim, Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology, South Korea
“Interoceptive regulation of food swallowing in C. Elegans”
“Interoceptive regulation of food swallowing in C. Elegans”
12:15 – 12:45
Matthew Alexander, The University of Alabama at Birmingham
“Generation and corrective drug screening for models of X-linked myopathy with excessive autophagy (XMEA)”
“Generation and corrective drug screening for models of X-linked myopathy with excessive autophagy (XMEA)”
12:45 – 13:00
Discussion with speakers
13:00 – 14:30
Lunch break & Poster session 1 (on site)
Session 3 – Genome programming
14:30 – 15:00
CB Gurumurthy, University of Mississippi Medical Center
“RE-CREATING and SCRIPT: emerging technologies for overcoming genome engineering challenges”
“RE-CREATING and SCRIPT: emerging technologies for overcoming genome engineering challenges”
15:00 – 15:35
Frank Buchholz, Medical Systems Biology, UCC, Faculty of Medicine, TU Dresden, Germany
“Engineering designer-recombinases for therapeutic genome editing”
“Engineering designer-recombinases for therapeutic genome editing”
15:35 – 15:50
Discussion with speakers
15:50 – 16:10
Coffee break
Session 4 – From genotype to phenotype: disease informatics
16:10 – 16:40
Damian Smedley, Queen Mary University of London, United Kingdom
“Phenotype-driven approaches to rare disease diagnostics and gene discovery”
“Phenotype-driven approaches to rare disease diagnostics and gene discovery”
16:40 – 17:10
Venkata Satagopam, Luxembourg Centre For Systems Biomedicine, Luxembourg
“Translational medicine multi-modal data approaches to investigate complex diseases”
“Translational medicine multi-modal data approaches to investigate complex diseases”
17:10 – 17:50
Gary Peltz, Stanford university, USA
“AI-Enabled Mouse Genetic Discovery”
“AI-Enabled Mouse Genetic Discovery”
17:50 – 18:05
Discussion with speakers
Informal part
19:00 – 22:00
Networking event – informal dinner
FRIDAY 12TH SEPTEMBER 2025
Session 5 – Models to understand gene function as a base for therapy development
09:00 – 09:30
Gopal Sapkota, University of Dundee, United Kingdom
“FAM83G/SACK1G Mutations Disrupt CK1α Interaction and WNT Signalling in Palmoplantar Keratoderma”
“FAM83G/SACK1G Mutations Disrupt CK1α Interaction and WNT Signalling in Palmoplantar Keratoderma”
09:30 – 10:00
Jana Balounova, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“FAM83H/SACK1H shapes thymic stromal architecture and postnatal lymphopoiesis via CK1 interaction”
“FAM83H/SACK1H shapes thymic stromal architecture and postnatal lymphopoiesis via CK1 interaction”
10:00 – 10:30
Samuele Ferrari, San Raffaele Telethon Institute for Gene Therapy, Italy
“Poisoning of healthy hematopoiesis drives clonal dominance in VEXAS syndrome”
“Poisoning of healthy hematopoiesis drives clonal dominance in VEXAS syndrome”
10:30 – 11:00
Yonghwan Kim, Sookmyung Women’s University, Republic of Korea
“A rare variant allele of BMPR2 predisposes to the onset of a novel subtype of congenital heterotopic ossification”
“A rare variant allele of BMPR2 predisposes to the onset of a novel subtype of congenital heterotopic ossification”
11:00 – 11:15
Discussion with speakers
11:15 – 11:35
Coffee break
Session 6 – Short presentations: selected poster presentations & technology talks
Flash oral presentations
11:35 – 11:45
Tanja Sorg, PHENOMIN – ICS, France
“Deciphering the consequences of CLCN4 mutations in rat models for a better understanding of the rare X-linked CLCN4-related neurodevelopmental condition”
“Deciphering the consequences of CLCN4 mutations in rat models for a better understanding of the rare X-linked CLCN4-related neurodevelopmental condition”
11:45 – 11:55
Alice Foltýnová, Institute of Experimental Medicine of the Czech Academy of Sciences, Czech Republic
“Reprogramming of glial cells into interneurons using synthetic mRNA”
“Reprogramming of glial cells into interneurons using synthetic mRNA”
11:55 – 12:05
Chao-Kuen Lai, Academia Sinica, Taiwan
“The Taiwan Mouse Clinic: the first user-friendly platform for high-quality, high-throughput, comprehensive phenotyping and drug testing of mouse models in Asia”
“The Taiwan Mouse Clinic: the first user-friendly platform for high-quality, high-throughput, comprehensive phenotyping and drug testing of mouse models in Asia”
Technologies for animal models
12:05 – 12:20
Dr. Jörg Bantin, Bio-Rad
“Digital PCR is a breakthrough technology that provides ultrasensitive and absolute nucleic acid quantification”
“Digital PCR is a breakthrough technology that provides ultrasensitive and absolute nucleic acid quantification”
12:20 – 12:35
Peter Kesa, FUJIFILM VisualSonics
“HF ultrasound and photoacoustic in phenotyping of animal models – from early embryogenesis to aging studies”
“HF ultrasound and photoacoustic in phenotyping of animal models – from early embryogenesis to aging studies”
12:35 – 12:50
Behdad Pouran, Milabs, CANBERRA-PACKARD s. r. o.
“Unraveling the Biology of Rare and Genetic Diseases with Multi-modal Preclinical Imaging”
“Unraveling the Biology of Rare and Genetic Diseases with Multi-modal Preclinical Imaging”
12:50 – 14:15
Lunch break & Poster session 2 (on site)
Session 7 – Rare diseases & bottom-up efforts to develop (gene) therapies
14:15 – 14:35
Jakub Sikora, Charles University 1st Medical Faculty, Czech Republic
“Pathogenic variants in EHMT2 as a novel cause of Kleefstra syndrome”
“Pathogenic variants in EHMT2 as a novel cause of Kleefstra syndrome”
14:35 – 15:05
Foundation 1: Charlie project (www.charlie.science)
Research speaker: Caroline Linster, University of Luxembourg, Luxembourg
“New zebrafish models for lysine metabolism disorders”
Foundation representative speaker: Albert Carbonell, Spanish patient association FAMILIA GA1, Spain
“Unmet medical and psychosocial needs in glutaric aciduria type 1 and pyridoxine-dependent epilepsy: insights from an international patient survey”
Research speaker: Caroline Linster, University of Luxembourg, Luxembourg
“New zebrafish models for lysine metabolism disorders”
Foundation representative speaker: Albert Carbonell, Spanish patient association FAMILIA GA1, Spain
“Unmet medical and psychosocial needs in glutaric aciduria type 1 and pyridoxine-dependent epilepsy: insights from an international patient survey”
15:05 – 15:25
Coffee break
15:25 – 15:55
Foundation 2: YWHAG Foundation (www.ywhagfoundation.org)
Scientific speaker: Helen Chen, USA
“Scientific updates from the YWHAG Research Foundation”
Foundation representative speaker: Andrew Miner, YWHAG Foundation, USA
“From Heartbreak to Hope: A Father’s Journey Mobilizing Global YWHAG Research”
Scientific speaker: Helen Chen, USA
“Scientific updates from the YWHAG Research Foundation”
Foundation representative speaker: Andrew Miner, YWHAG Foundation, USA
“From Heartbreak to Hope: A Father’s Journey Mobilizing Global YWHAG Research”
15:55 – 16:25
Foundation 3: A-T Children’s Project (www.atcp.org)
Scientific speaker: Timothy W. Yu, Harvard Medical School, USA
“Precision genetic intervention and ‘N=1 trials’ for Ataxia Telangiectasia”
Foundation/patient representative speaker: Tomas Pavlicek, ATAP and A-T Dad, Czech Republic
“Global landscape of AT patient organisations”
Scientific speaker: Timothy W. Yu, Harvard Medical School, USA
“Precision genetic intervention and ‘N=1 trials’ for Ataxia Telangiectasia”
Foundation/patient representative speaker: Tomas Pavlicek, ATAP and A-T Dad, Czech Republic
“Global landscape of AT patient organisations”
16:25 – 16:50
Discussion with speakers
16:50 – 17:25
Steve Murray, The Jackson Laboratory, Maine, USA
“From discovery to treatment: the JAX Center for Precision Genetics”
“From discovery to treatment: the JAX Center for Precision Genetics”
Closing
17:25 – 17:30
Radislav Sedlacek, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic