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”
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”
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”
11:25 – 12:00
Dierk Niessing
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”
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”
15:30 – 16:00
Venkata Satagopam
Luxembourg Centre For Systems Biomedicine, Luxembourg
Topic:
16:00 – 16:30
Speaker
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:
17:25 – 18:10
Keynote lecture
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”
9:30 –10:00
Jana Balounova
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”
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”
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”
12:40 – 13:00
Behdad Pouran
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”
15:00 – 15:40
Foundation 2: – YWHAG Foundation (https://www.ywhagfoundation.org/)
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:
16:20 – 17:00
Concluding lecture
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
Public discussion about rare disease problematics – Satellite Event