Programme
THURSDAY 15TH SEPTEMBER 2022
9:00 – 10:00
Registration
Session 1 – Opening + Rare diseases & models I
(Chair: tba)
10:00 – 10:20
Radislav Sedlacek, Institute of Molecular Genetics, Czech Academy of Sciences, Czech Republic – “Welcoming lecture”
10:20 – 11:00
Ophir Klein, University of California, San Francisco, USA – Keynote lecture – “tba”
Session 2 – Rare diseases & models I
(Chair: tba)
11:00 – 11:20
Tomas Stopka, First Faculty of Medicine, Charles University, Czech Republic – “Diamond-Blackfan anaemia model to understand the molecular pathology of the disease development”
11:20 – 11:40
Murim Choi, Seoul National University College of Medicine, Korea – title (tba)
11:40 – 12:00
Seppo Ylä-Herttuala, University of Eastern Finland, Finland – “Models and preclinical gene therapy program in familial hypercholesterolemia”
12:00 – 12:20
Discussion with speakers
Lunch break
12:20 – 13:30
Session 3 – Rare diseases & therapy delivery
(Chair: tba)
13:30 – 13:50
Heon Yung Gee, Yonsei University of College of Medicine, Korea – “mTOR inhibitors alleviate proteinopathy resulting from OSBPL2 mutations”
13:50 – 14:10
Pascale Bouillé, Flash Therapeutics, France – “The same lentiviral platform for efficient DNA or RNA delivery”
14:10 – 14:30
Saara Laitinen, Finnish Red Cross Blood Service, Finland – “Exosomes for CNS therapy”
14:30 – 14:50
Discussion with speakers
Poster session 1 – on-site
including coffee brak
14:50 – 16:00
Session 4 – Short and technology talks
(Chair: tba)
16:00 – 16:15
Thomas Penning, Instech Laboratories
16:15 – 16:30
tba
16:30 – 16:45
tba
16:45 – 17:00
tba
Informal dinner
18:00 – 21:00
FRIDAY 16TH SEPTEMBER 2022
Session 5 – Rare diseases & models II
(Chair: tba)
9:30 – 9:50
Damian Smedley, Queen Mary University of London, United Kingdom – “Phenotype-based diagnostics and discovery in rare disease”
9:50 – 10:10
Reetta Hinttala, University of Oulu, Finland – “Geno-phenotype discoveries of rare diseases among the Finns”
10:10 – 10:30
Stanislav Kmoch, First Faculty of Medicine, Charles University, Czech Republic – “Finding the genetic causes of chronic kidney disease”
10:30 – 10:50
Discussion with speakers
Coffee break
10:50 – 11:20
Session 6 – Rare diseases & non-coding elements
(Chair: tba)
11:20 – 12:00
Len Pennacchio, Lawrence Berkeley National Laboratory, USA – Keynote lecture “In Vivo Studies of Human Genome Function”
12:00 – 12:30
Nadav Ahituv, University of California, San Francisco, USA – “Functional characterization and therapeutic targeting of gene regulatory elements”
12:30 – 12:50
Joris van Arensbergen, Annogen B.V., Netherlands – “tba”
12:50 – 13:10
Discussion with speakers
Lunch break
13:10 – 14:10
Session 7 – Short talks selected from poster presentations
(Chair: tba)
14:10 – 14:20
tba
14:20 – 14:30
tba
14:30 – 14:40
tba
14:40 – 14:50
tba
14:50 – 15:10
Discussion with speakers
Session 8 – Closing
(Chair: tba)
15:10 – 15:20
Radislav Sedlacek, Institute of Molecular Genetics, Czech Academy of Sciences, Czech Republic – “Closing remarks”
Poster session 2 – online
15:20 – 17:00