Programme
WEDNESDAY 13TH SEPTEMBER 2023
Engineered Allele Validation Workshop
Side event organized by MRC Harwell and PHENOMIN-ICS – Venue: CCP -BIOCEV, Prumyslova 595, Vestec
Programme and registration for the workshop available here. It is necessary to register for the workshop on this website, if you intend to participate in the workshop.
THURSDAY 14TH SEPTEMBER 2023
9:00 – 10:00
Registration + refreshment
Session 1 – Opening + Rare diseases & models I
(Chair: Radislav Sedláček)
10:00 – 10:20
Radislav Sedláček, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic – “Czech Centre for Phenogenomics: Leveraging the mouse models resources & challenges”
Anna Arellanesová, Czech Association for Rare Diseases, Czech Republic – Opening greeting
Anna Arellanesová, Czech Association for Rare Diseases, Czech Republic – Opening greeting
10:20 – 11:00
James Noonan, Yale School of Medicine, United States – Keynote lecture – “Mouse models as an entry point for understanding gene regulatory variation and its effects on traits within and across species”
Session 2 – Rare diseases & models I
(Chair: Jan Procházka)
11:00 – 11:20
Illana Gozes, Tel Aviv University, Israel – “The autistic ADNP syndrome and davunetide: From gene to drug development”
11:20 – 11:40
Hana Hanzlíková, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic – “DNA repair defects and human neurological disease”
11:40 – 12:00
Fatima Bosch, Autonomous University of Barcelona, Spain – “Gene Therapy for Lysosomal Storage Diseases: Treatment of Severe Mucopolysaccharidoses”
12:00 – 12:20
Discussion with speakers
Lunch break
12:20 – 13:30
Session 3 – Disease models & therapy delivery: Short and technology talks
(Chairs: Karel Chalupsky & Petr Nickl)
13:30 – 13:50
Petr Nickl, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic – “EV-AAV Vector: A Novel Tool for Efficient and Non-Invasive Genetic Delivery into Zygotes”
13:50 – 14:05
Pavel Krist, ZEISS Research Microscopy Solutions, Czech Republic – “ZEISS solutions for the most advanced imaging of animal models”
14:05 – 14:20
Mickael Ploquin, Vizgen Inc., USA (Accela sponsored talk) – “Explore new dimensions through spatial context using Vizgen MERSCOPE”
14:20 – 14:35
Katarzyna Kowalczyk, BIO-RAD spol. s r.o., Czech Republic – “BIO-RAD – Your partner in genomics experiments: Application possibilities of ddPCR”
14:35 – 14:50
Christine Duthoit, Flash Therapeutics, France – “A game-changing RNA delivery platform for next generation therapy to transfer multiple RNA in vivo: LentiFlash® for the treatment of lymphedema”
14:50 – 15:10
Discussion with speakers
Poster session 1 – on-site
including coffee break
15:10 – 16:00
Session 4 – Genetic diseases & therapy
(Chair: Radislav Sedláček)
16:00 – 16:20
Axel Schambach, Hannover Medical School, Germany – “Gene therapy for the treatment of inherited and acquired diseases”
16:20 – 16:40
Ras Trokovic, University of Helsinki, Finland – “CRISPRa: Unlocking the Potential of Epigenetic Reprogramming to Pluripotency”
16:40 – 17:00
Marcello Maresca, AstraZeneca, Sweden – “Targeting the human genome with SpOT-ON Cas9”
17:00 – 17:20
Discussion with speakers
Informal dinner
18:00 – 21:00
FRIDAY 15TH SEPTEMBER 2023
Session 5 – Rare diseases & models II
(Chair: Radislav Sedláček)
9:30 – 9:50
Marián Hajdúch, Institute of Molecular and Translational Medicine, Czech Republic – “Drug repurposing strategies for treatment of rare diseases”
9:50 – 10:10
Norbert Weis, Third Faculty of Medicine, Charles University, Czech Republic – “T-type calcium channelopathies”
10:10 – 10:30
Jan Tuckermann, University of Ulm, Germany – “Mouse models uncovering regulation of Immune Metabolism by glucocorticoids”
10:30 – 10:50
Luca Varani, Institute for Research in Biomedicine, Universita’ della Svizzera italiana, Italy – “A conformational switch controlling the toxicity of the prion protein, rational design of neuroprotective antibodies”
10:50 – 11:10
Discussion with speakers
Coffee break
11:10 – 11:30
Session 6 – Short & technology talks selected from poster presentations
(Chair: Jan Procházka)
11:30 – 11:45
Miles Joseph Raishbrook, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic – “The impact of Fam84b in retinal homeostasis”
11:45 – 12:00
Poulami Banik, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic – “Correcting splicing of Prpf31 in retinitis pigmentosa – A step towards finding a cure”
12:00 – 12:15
Marketa Kolarikova, University of Palacky, Olomouc, Czech Republic – “The Enhancement of Anticancer Therapy with Liposome-Enclosed Porphyrin”
12:15 – 12:30
Zuzana, Nichtova, Thomas Jefferson University, Philadelphia, United States – “Chronic Enhancement of Mitochondria-SR Tethering in the Heart through Genetic Engineering Triggers Adaptive Cardiac Muscle Remodeling”
12:30 – 12:45
Discussion with speakers
Lunch break & poster session 2
12:45 – 14:00
Session 7 – Genetics of diseases & non-coding genome
(Chair: Radislav Sedláček)
14:00 – 14:20
Annique Claringbould, European Molecular Biology Laboratory, Germany – “Pooled multiomic single-cell CRISPRi screen of schizophrenia risk genes”
14:20 – 14:40
Hans Tómas Björnsson, University of Iceland, Iceland – “The histone methylation machinery: roles in rare disease and environmental responses”
14:40 – 15:00
David U. Gorkin, Emory University, United States – “Single-cell epigenomic phenotyping of mice lacking chromatin regulators”
15:00 – 15:40
Matthew T. Maurano, Institute for Systems Genetics & Dept. of Pathology, NYU Medical Center, United States – Keynote lecture – “Synthetic genomic dissection of enhancer context sensitivity and synergy”
15:40 – 16:00
Discussion with speakers
Session 8 – Closing
16:00 – 16:10
Radislav Sedlacek, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic – “Closing remarks”