Programme
THURSDAY 11TH SEPTEMBER 2025
9:00 – 9:30
Registration
Opening + Session 1 – Models to understand gene function in vivo I
Radislav Sedlacek
9:30 – 9:45
Radislav Sedlacek
Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Welcoming lecture: CCP 2025: Developing the “RD-factory” program”
Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Welcoming lecture: CCP 2025: Developing the “RD-factory” program”
9:45 – 10:30
Introductory lecture – Models to understand gene function in vivo: CNS and disease
Yann Herault
Institute of Genetics and Molecular and Cellular Biology, France
“Models of Alzheimer”
Yann Herault
Institute of Genetics and Molecular and Cellular Biology, France
“Models of Alzheimer”
10:30 -10:50
Coffee break
Session 2 – Models to understand gene function in vivo II
10:50 – 11:25
Alessandra Biffi
University of Padova and Padova University Hospital, Italy
“Alzheimer – therapy development”
University of Padova and Padova University Hospital, Italy
“Alzheimer – therapy development”
11:25 – 12:00
Dierk Niessing
Helmholtz Zentrum München and Ulm University, Molecular Target and Therapy Center, Germany
“PURA syndrome – a rare neurodevelopmental disorder”
Helmholtz Zentrum München and Ulm University, Molecular Target and Therapy Center, Germany
“PURA syndrome – a rare neurodevelopmental disorder”
12:00 – 12:30
Kyuhyung Kim
Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology, South Korea
“Interoceptive Regulation of Food Swallowing in C. Elegans”
Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology, South Korea
“Interoceptive Regulation of Food Swallowing in C. Elegans”
12:30 – 13:50
Discussion with speakers
Lunch break
13:50 – 15:00
Lunch break & Poster session 1 (on site)
Session 3 – From genotype to phenotype: disease informatics
15:00 – 15:30
Damian Smedley (UK)
Queen Mary University of London, United Kingdom
“Rare disease gene association discovery in the 100,000 Genomes Project”
Queen Mary University of London, United Kingdom
“Rare disease gene association discovery in the 100,000 Genomes Project”
15:30 – 16:00
Venkata Satagopam
Luxembourg Centre For Systems Biomedicine, Luxembourg
Topic:
Luxembourg Centre For Systems Biomedicine, Luxembourg
Topic:
16:00 – 16:30
Speaker
Institution
Topic:
Institution
Topic:
16:30 – 16:50
Coffee break
Session 4 – Genome programming and artificial circuits
Radislav Sedlacek
16:50 – 17:25
Frank Buchholz
Medical Systems Biology, UCC, Faculty of Medicine, TU Dresden, Germany
Topic:
Medical Systems Biology, UCC, Faculty of Medicine, TU Dresden, Germany
Topic:
17:25 – 18:10
Keynote lecture
Wendell A. Lim, Ph.D.
Cell Design Institute, University of California, San Francisco, USA
Topic:
Wendell A. Lim, Ph.D.
Cell Design Institute, University of California, San Francisco, USA
Topic:
18:10 – 18:30
Discussion with speakers
19:00 – 22:00
Informal dinner
FRIDAY 12TH SEPTEMBER 2025
Session 5 – Models to understand gene function as a base for therapy development
9:00 – 9:30
Gopal Sapkota
University of Dundee, United Kingdom
“FAM83H functions”
University of Dundee, United Kingdom
“FAM83H functions”
9:30 –10:00
Jana Balounova
Czech Centre for Phenogenomics, Institute of Molecular Genetics, Czech Republic
“New immunoregulatory role of FAM83h”
Czech Centre for Phenogenomics, Institute of Molecular Genetics, Czech Republic
“New immunoregulatory role of FAM83h”
10:00 – 10:30
Samuele Ferrari
San Raffaele Telethon Institute for Gene Therapy, Italy
“Poisoning of healthy hematopoiesis drives clonal dominance in VEXAS syndrome”
San Raffaele Telethon Institute for Gene Therapy, Italy
“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”
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”
11:00 – 11:15
Discussion with speakers
11:15– 11:35
Coffee break
Session 6 – Short presentations: selected poster presentations & technology talks
11:35 – 11:50
Speaker 1 – to be selected
11:50 – 12:05
Speaker 2 – to be selected
12:05 – 12:20
Speaker 3 – to be selected
12:20 – 12:40
Peter Kesa
FUJIFILM VisualSonics
“HF Ultrasound and Photoacoustic in Phenotyping of Animal Models – from Early Embryogenesis to Aging Studies”
FUJIFILM VisualSonics
“HF Ultrasound and Photoacoustic in Phenotyping of Animal Models – from Early Embryogenesis to Aging Studies”
12:40 – 13:00
Behdad Pouran
Milabs, CANBERRA-PACKARD s. r. o.
Topic:
Milabs, CANBERRA-PACKARD s. r. o.
Topic:
Lunch break
13:00 – 14:20
Lunch break & Poster session 2 (on site)
Session 7 – Rare diseases & bottom-up efforts to develop (gene) therapies
14:20 – 15:00
Foundation 1: Charlie project (https://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 Needs in PDE and GA1: Patient Insights from an International 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 Needs in PDE and GA1: Patient Insights from an International Survey”
15:00 – 15:40
Foundation 2: – YWHAG Foundation (https://www.ywhagfoundation.org/)
Scientific speaker:
Topic:
Foundation representative speaker: Andrew Miner, YWHAG Foundation, USA
Topic:
Scientific speaker:
Topic:
Foundation representative speaker: Andrew Miner, YWHAG Foundation, USA
Topic:
15:40 – 16:20
Foundation 3: – A-T Children’s Project (www.atcp.org)
Scientific speaker:
Topic:
Foundation/patient representative speaker: Tomas Pavlicek, A-T Children’s Project, Czech Republic
Topic:
Scientific speaker:
Topic:
Foundation/patient representative speaker: Tomas Pavlicek, A-T Children’s Project, Czech Republic
Topic:
16:20 – 17:00
Concluding lecture
Steve Murray
The Jackson Laboratory, Maine, USA
Topic:
Steve Murray
The Jackson Laboratory, Maine, USA
Topic:
Session 8 – Closing
17:20 – 17:25
Closing remarks
Radislav Sedlacek
Czech Centre for Phenogenomics Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Radislav Sedlacek
Czech Centre for Phenogenomics Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
Public discussion about rare disease problematics – Satellite Event