The conference is preceded by the Fall meeting of the International Mouse Phenotyping Consortium (IMPC) on 15 – 16 September 2024. For more information on IMPC Fall meeting, please visit: https://www.phenogenomics.cz/2024/06/impc-fall-meeting/
Programme
TUESDAY 17TH SEPTEMBER 2024
9:00 – 9:30
Registration
Opening + Session 1 – Models to understand gene function in vivo I
(Chair: Radislav Sedláček)
9:30 – 9:45
Radislav Sedláček, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Welcoming Lecture: CCP 2024: Leveraging the Mouse Models to Understand Gene Function and their Role in Human Diseases”
“Welcoming Lecture: CCP 2024: Leveraging the Mouse Models to Understand Gene Function and their Role in Human Diseases”
9:45 – 10:30
David Sabatini, Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Czech Republic (keynote speaker)
“Control of growth and metabolism by the mTOR pathway”
“Control of growth and metabolism by the mTOR pathway”
10:30 – 10:55
Yann Herault, Institute of Genetics and Molecular and Cellular Biology, France
“Liver Disease in Down Syndrome”
“Liver Disease in Down Syndrome”
10:55 -11:15
Coffee break/poster session
Session 2 – Models to understand gene function in vivo II
11:15 – 11:40
Eun Young Kim, Ajou University, School of Medicine, Republic of Korea
“Peptidyl Prolyl Isomerase Fine-tunes Circadian Rhythm”
“Peptidyl Prolyl Isomerase Fine-tunes Circadian Rhythm”
11:40 – 12:05
Manuel Goncalves, Leiden University Medical Centre, Department of Cell and Chemical Biology, Netherlands
“Large Gene-Editing Systems Targeting the Largest Human Gene: Duchenne Muscular Dystrophy as a Target Disease Model”
“Large Gene-Editing Systems Targeting the Largest Human Gene: Duchenne Muscular Dystrophy as a Target Disease Model”
12:05 – 12:30
Jan Procházka, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Ameloblastin as a General Calcium Regulator”
“Ameloblastin as a General Calcium Regulator”
12:30 – 13:00
Discussion with speakers
Lunch break
13:00 -14:15
Lunch break/poster session
Session 3 – Teaming projects in gene and cell therapy
14:15 – 14:35
Mojca Bencina, National Institute of Chemistry, Slovenia
“Centre for the Technologies of Gene and Cell Therapy: Advancing Healthcare Through Synthetic Biology”
“Centre for the Technologies of Gene and Cell Therapy: Advancing Healthcare Through Synthetic Biology”
14:35 – 14:55
Luis Pereira de Almeida, Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
“Gene Therapy: the time is now”
“Gene Therapy: the time is now”
14:55 – 15:15
Regina Demlová, Central European Advanced Therapy and Immunotherapy Center (CREATIC) + Faculty of Medicine, Masaryk University, Czech Republic
“Advanced Therapy Medicinal Products and the Changing Role of Academia”
“Advanced Therapy Medicinal Products and the Changing Role of Academia”
15:15 – 15:30
Discussion with speakers
15:30 – 16:00
Coffee break / poster session
Session 4 – Non-coding & therapy
16:00 – 16:25
Judith Zaugg, European Molecular Biology Laboratory, Germany
“How do cells integrate extrinsic signals and intrinsic state? A systems epigenetics approach”
“How do cells integrate extrinsic signals and intrinsic state? A systems epigenetics approach”
16:25 – 16:50
Martin Kircher, Professor of Regulatory Genomics, Institute of Human Genetics, Campus Lübeck, Germany
“Scoring Genetic Variation in Coding and Non-coding Sequences”
“Scoring Genetic Variation in Coding and Non-coding Sequences”
16:50 – 17:35
Jef D. Boeke, NYU Langone Health, United States (keynote speaker)
“Engineering mammalian genomes”
“Engineering mammalian genomes”
17:35 – 18:00
Discussion with speakers
WEDNESDAY 18TH SEPTEMBER 2024
Session 5 – Models for gene therapy & genome editing
9:00 – 9:25
Martin Jinek, University of Zurich, Department of Biochemistry, Switzerland
“CRISPR Genome Editors: Mechanisms, Engineering and Therapeutic Applications”
“CRISPR Genome Editors: Mechanisms, Engineering and Therapeutic Applications”
9:25 –9:50
Hyunji Lee, KMPC and College of Medicine, Korea University, Republic of Korea
“Strategies for Creating Mitochondrial Genetic Engineering Mouse Model”
“Strategies for Creating Mitochondrial Genetic Engineering Mouse Model”
9:50 – 10:15
Pavel Krejčí, Masaryk University, Faculty of Medicine, Czech Republic
“FGFR3 in Skeletogenesis and Achondroplasia: New Treatment Development”
“FGFR3 in Skeletogenesis and Achondroplasia: New Treatment Development”
10:15 – 10:40
Jun Won Park, KMPC and Department of Laboratory Animal Medicine, College of Veterinary Medicine, Seoul National University, Republic of Korea
“Mouse Models for Dynamics of Epithelial Cell Plasticity During Gastric Carcinogenesis and Metastasis”
“Mouse Models for Dynamics of Epithelial Cell Plasticity During Gastric Carcinogenesis and Metastasis”
10:40 – 11:00
Discussion with speakers
11:00 – 11:20
Coffee break /poster session
Session 6 – Short presentations: Selected poster presentations & technology talks
11:20 – 11:35
Ladislav Vyklický, Institute of Physiology of the Czech Academy of Sciences, Czech Republic
“Cellular and molecular consequences of nonsense and missense GRIN gene variants in animal models: Gain of function or loss of function, that is the question”
“Cellular and molecular consequences of nonsense and missense GRIN gene variants in animal models: Gain of function or loss of function, that is the question”
11:35 – 11:50
Lillian Garrett, Helmholtz Center Munich, Germany
“Decoding Schizophrenia genetics: insights from mouse models and human brain expression data”
“Decoding Schizophrenia genetics: insights from mouse models and human brain expression data”
11:50 – 12:05
Silvia Mandillo, Institute of Biochemistry and Cell Biology, CNR-National Research Council, Italy
“Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of Myotonic Dystrophy type 1“
“Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of Myotonic Dystrophy type 1“
12:05 – 12:20
Filip Dámek, Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany
“New insights by comprehensive phenotyping of the Idua knockout mouse model”
“New insights by comprehensive phenotyping of the Idua knockout mouse model”
12:20 – 12:35
Katarzyna Kowalczyk, Field Application Specialist Genomics, CEE (Bio-Rad sponsored talk)
“ddPCR Advanced Applications – Easy Way for Delivery Solution for Detecting Rare Diseases, Create Therapies and Quality Control”
“ddPCR Advanced Applications – Easy Way for Delivery Solution for Detecting Rare Diseases, Create Therapies and Quality Control”
12:35 – 12:50
Jessica Hartman, Cell Microsystems, USA (Accela sponsored talk)
“Automate and Simplify Cell Line Development Using the CellRaft AIR® System”
“Automate and Simplify Cell Line Development Using the CellRaft AIR® System”
12:50 – 13:10
Discussion with speakers
Lunch break
13:10 – 14:10
Lunch break / poster session
Session 7 – Rare diseases & bottom-up efforts to develop (gene) therapies
14:10 – 14:35
Kacper Lukasiewicz, Medical University of Bialystok, Psychiatry Clinic, Poland
“Insights into PACS2-related Syndrome: Lessons from In Vitro and In Vivo Models”
Piotr Kosla, PACS2 Research Foundation, Poland
“New model to cure ultra rare: Patient-led collaborative research networks”
“Insights into PACS2-related Syndrome: Lessons from In Vitro and In Vivo Models”
Piotr Kosla, PACS2 Research Foundation, Poland
“New model to cure ultra rare: Patient-led collaborative research networks”
14:35 – 15:00
Spela Mirosevic, CTNNB1 Foundation, Slovenia
“Finding a Cure for CTNNB1 Syndrome: The Role of the Foundation” (10 min)
Dusko Lainscek, National Institute of Chemistry, Department of Synthetic Biology and Immunology, Slovenia
“Finding a Cure for CTNNB1 Syndrome: Research Presentation” (15 min)
“Finding a Cure for CTNNB1 Syndrome: The Role of the Foundation” (10 min)
Dusko Lainscek, National Institute of Chemistry, Department of Synthetic Biology and Immunology, Slovenia
“Finding a Cure for CTNNB1 Syndrome: Research Presentation” (15 min)
15:00 – 15:25
Tanja Zdolsek Draksler, Jožef Stefan Institute, International Research Centre on Artificial Intelligence under the Auspices of UNESCO and IDefine Europe Foundation, Slovenia
“Solving Rare Diseases: How Global Collaboration and Data are Advancing Kleefstra Syndrome Research”
Pauline Larqué, Radboud University, The Netherlands
“Understanding the Cell-type Specific Function of EHMT1 in Neuronal Network Function”
“Solving Rare Diseases: How Global Collaboration and Data are Advancing Kleefstra Syndrome Research”
Pauline Larqué, Radboud University, The Netherlands
“Understanding the Cell-type Specific Function of EHMT1 in Neuronal Network Function”
15:25 – 15:50
Discussion with speakers
15:50 – 16:15
Coffee break/poster session
Session 8 – Closing
16:15 – 17:00
Cathleen Lutz, The Jackson Laboratory, United States (concluding keynote lecture)
“After the Diagnosis: Gene Based Therapies and the Road to Treatments”
“After the Diagnosis: Gene Based Therapies and the Road to Treatments”
17:00 – 17:10
Radislav Sedláček, Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Czech Republic
“Closing remarks”
“Closing remarks”
THURSDAY 19TH SEPTEMBER 2024
Czech-Korean Workshop on Phenogenomics – Satellite Event