Somatic Mosaicism in Human Development, Aging, and Diseases (Q5)
February 17-20, 2025
| Beaver Run Conference Center, Breckenridge, CO, United States
Jeong Ho Lee, E. Alice Lee and Peter Campbell
Scholarship Deadline: Nov. 27, 2024 | Abstract Deadline: Jan. 28, 2025 | Early Registration Deadline: Dec. 24, 2024
Monday, February 17, 2025
| 4:00–8:00 PM |
Registration |
3rd Floor Foyer |
| 6:00–8:00 PM |
Welcome Mixer |
3rd Floor Foyer |
Tuesday, February 18, 2025
| 7:00–8:00 AM |
Breakfast |
Summit Gallery |
| 8:00–9:00 AM |
Welcome and Keynote Address |
Breckenridge Ballroom |
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* Jeong Ho Lee, Korea Advanced Institute of Science and Technology
Session Chair |
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Christopher A Walsh, Boston Children's Hospital/HHMI
Somatic Mosaicism in Human Brain Development and Aging |
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| 9:00–12:00 PM |
Developmental and Aging Process |
Breckenridge Ballroom |
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* Jeong Ho Lee, Korea Advanced Institute of Science and Technology
Session Chair |
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Alexander E Urban, Stanford University School of Medicine
Machine Learning Analysis of Deep Whole-Genome Sequencing Data from a Large Neuropsychiatric Cohort Reveals Regular Presence of Somatic, Mosaic LINE-1 Insertions in Human Brain |
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Young Ju, Korea Advanced Institute of Science and Technology
Genomic and Epigenetic Mosaicism in Human Early Embryogenesis |
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Jan Vijg, Albert Einstein College of Medicine
Role of Somatic Mutations in Aging and Disease |
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Ana Cvejic, University of Copenhagen
Mosaicism in the Development and Aging of Hematopoietic Organs |
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Lori D Kregar, Wellcome Sanger Institute
Short Talk: Somatic Methylation Mosaicism in Ageing And Disease |
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Diane D Shao, Boston Children's Hospital
Short Talk: Widespread Genetically Aberrant Neurons During Human Neurodevelopment Revealed Through Single Nuclei Sequencing |
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| 9:30–9:50 AM |
Coffee Break |
1st Floor Foyer |
| 12:00–1:00 PM |
Poster Setup |
Peaks 1 - 3 |
| 12:00–2:30 PM |
On Own for Lunch |
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| 1:00–10:00 PM |
Poster Viewing |
Peaks 1 - 3 |
| 2:45–4:30 PM |
Symposia Spotlight 1: SMaHT Network Training Workshop |
Breckenridge Ballroom |
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* Soren Germer, New York Genome Center
Session Chair |
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James Bennett, Seattle Childrens Research Institute
Introduction to the Somatic Mosaicism Across Human Tissues (SMaHT) Network |
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Alexej Abyzov, Mayo Clinic
SMaHT Benchmarking Design |
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Elizabeth Chun, Harvard Medical School
Data Analysis Center Of The Somatic Mosaicism Across Human Tissues (Smaht) Network |
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Min-Hwan Sohn, University of Washington
Telomere-To-Telomere Mapping Of Cancer Somatic Variants And Their Functional Impact On Chromatin |
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Jiny Ha, Harvard Medical School
Accurate Characterization Of Mosaic Small Variants In Human Genome |
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Boxun Zhao, Boston Children's Hospital
Enhanced HAT-Seq Reveals Developmental Somatic L1 Insertion Clones in Ataxia-Telangiectasia Brains |
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Andrea Kriz, Boston Children's Hospital/Harvard Medical School
Duplex-Multiome Discovers Somatic Mutation Patterns And Impact Across Cell Types |
|
| 4:30–5:00 PM |
Coffee Available |
1st Floor Foyer |
| 5:00–7:00 PM |
Mechanism and Modeling of Somatic Mosaicism |
Breckenridge Ballroom |
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* Peter J. Park, Harvard Medical School
Session Chair |
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E. Alice Lee, Boston Children's Hospital & Harvard Medical School
Retrotransposon as a Non-Canonical Mechanism Driving Somatic Mosaicism |
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Kristin Baldwin, Columbia University
Modeling Somatic Mosaicism in iPSCs |
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Helen Bateup, University of California, Berkeley
Modeling Somatic Mosaicism in Brain Organoids |
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Hyun Young Jung, KAIST
Short Talk: Somatic Slc35a2 Mosaicism Drives Novel Glycoprotein Production Causing Intractable Epilepsy With Oligodendrocyte Dysfunction |
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Jacey Pridgen, Baylor College of Medicine
Short Talk: DNMT3A Loss Dysregulates Hematoendothelial Differentiation in The Mosaic Context |
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| 7:00–8:00 PM |
Social Hour with Lite Bites |
Peaks 1 - 3 |
| 7:30–10:00 PM |
Poster Session 1 |
Peaks 1 - 3 |
Wednesday, February 19, 2025
| 7:00–8:00 AM |
Breakfast |
Summit Gallery |
| 8:00–11:00 AM |
Technology and Tool Development |
Breckenridge Ballroom |
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* Peter Campbell, Wellcome Trust Sanger Institute
Session Chair |
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* Nuria Lopez-Bigas, IRB Barcelona
Session Chair |
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Gilad Evrony, NYU Grossman School of Medicine
Advancing the Fidelity and Speed of Somatic Mutation Detection |
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Sangwoo Kim, Yonsei University
Benchmarking Tools to Detect Low-Level somatic Mosaicism |
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Peter J. Park, Harvard Medical School
A Pan-Tissue Survey of Mosaic Chromosomal Alterations |
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Laura Mincarelli, Wellcome Sanger Institute
Short Talk: Investigating Clonal Haematopoiesis Using A Novel Single Cell Multi-Omic Approach |
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Andrew R D'Avino, Weill Cornell Medicine
Short Talk: Accelerating Discovery Of Chronic Disease-Associated Driver Genes By Detecting Somatic Mutations From Bulk Rna-Seq Data |
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Michael A. Lodato, University of Massachusetts Chan Medical School
Short Talk: Linking Single-Cell Transcriptomic And Genomic Changes In The Aging Human Brain |
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Yanmei Dou, Westlake University
Short Talk: Advanced Bioinformatics Tools For Somatic Mosaicism Analysis And Visualization |
|
| 9:00–9:20 AM |
Coffee Break |
1st Floor Foyer |
| 9:20–9:25 AM |
Award Recipient Acknowledgement |
Breckenridge Ballroom |
| 11:00–1:00 PM |
Poster Setup |
Peaks 1 - 3 |
| 11:00–5:00 PM |
On Own for Lunch |
|
| 1:00–10:00 PM |
Poster Viewing |
Peaks 1 - 3 |
| 3:30–4:30 PM |
Career Roundtable (Joint) |
Colorado Ballroom |
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Hao Zhu, University of Texas Southwestern Medical Center
Associate Professor & Attending Physician |
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Cindy Guidi, AstraZeneca
Principal Scientist |
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Mitchell Lee, Ora Biomedical, Inc.
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Michael J Corley, Weill Cornell Medicine
Associate Professor |
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| 4:30–5:00 PM |
Coffee Available |
1st Floor Foyer |
| 5:00–7:00 PM |
Cancer Evolution |
Breckenridge Ballroom |
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* Richard A. Gibbs, Baylor College of Medicine
Session Chair |
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Peter Campbell, Wellcome Trust Sanger Institute
Somatic Mosaicism in Premalignant State and Cancer Evolution |
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Nuria Lopez-Bigas, IRB Barcelona
Clonal Selection in Normal Tissues and its Relation to Cancer Risk |
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Kelly Bolton, Washington University
Clonal Hematopoiesis Impacting Cancer Evolution and Therapy |
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Tim Coorens, Broad Institute of MIT and Harvard
Short Talk: The Somatic Mutation Landscape Of Normal Gastric Epithelium |
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Irene Franco, San-Raffaele University Milan
Short Talk: Tracking Kidney Cancer Initiation Via Somatic Mutation Analysis Of Normal Kidney Cells |
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| 7:00–8:00 PM |
Social Hour with Lite Bites |
Peaks 1 - 3 |
| 7:30–10:00 PM |
Poster Session 2 |
Peaks 1 - 3 |
Thursday, February 20, 2025
| 7:00–8:00 AM |
Breakfast |
Summit Gallery |
| 8:00–11:00 AM |
Non-Malignant Diseases |
Breckenridge Ballroom |
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* Gilad Evrony, NYU Grossman School of Medicine
Session Chair |
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* Young Ju, Korea Advanced Institute of Science and Technology
Session Chair |
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Stéphanie Baulac, Institut du Cerveau (ICM)
Somatic Mosaicism in Epileptogenesis |
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Frederic Geissmann, Memorial Sloan Kettering Cancer Center
Oncogenic Somatic Mosaicism in Neurodegenerative Disorders |
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Hao Zhu, University of Texas Southwestern Medical Center
Somatic Mosaicism and Clonal Selection in Metabolic Liver Disease |
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Satu Mustjoki, University of Helsinki
Somatic Mosaicism in Immune Cells and Autoimmune Disease |
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August Yue Huang, Boston Children's Hospital
Short Talk: Alzheimer’s Disease Microglia Exhibit An Enrichment Of Somatic Cancer Driver Mutations, Correlating With Disease-Associated Inflammatory States |
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Giovanna Mantica, University of Cambridge
Short Talk: Dnmt3a R882 Mutation Alters Clonal And Myeloid Differentiation Dynamics Of Human Haematopoietic Stem Cells |
|
| 9:00–9:20 AM |
Coffee Break |
1st Floor Foyer |
| 11:00–2:30 PM |
On Own for Lunch |
|
| 2:30–4:30 PM |
Symposia Spotlight 2: Late-breaking research presentations selected from abstract submissions |
Breckenridge Ballroom |
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* Kristin Baldwin, Columbia University
Session Chair |
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* Hao Zhu, University of Texas Southwestern Medical Center
Session Chair |
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Juliette Kamp, Erasmus MC
Elucidating The Human Brain-Specific Response To Dna Breaks: Monitoring Rna-Templated Dna Repair In Human Neurons |
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Sattar Khoshkhoo, Brigham and Women's Hospital
Hippocampal Somatic Variants Activating Ras-Mapk Signaling Contribute To Drug-Resistant Focal Epilepsy Through Clonal Selection |
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Martin Breuss, University of Colorado Anschutz Medical Campus
The Origin, Impact, And Utility Of Mosaicism Analysis In Sperm |
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Sangita Choudhury, Boston Children's Hospital
Single-Nucleus Multi-Omic Profiling Of Polyploid Heart Nuclei Identifies Fusion-Derived Cardiomyocytes In Human Heart |
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Seok-Gu Kang, Severance Hospital, Yonsei University College of Medicine
Low-Level Developmental Mosaicism Of Driver Genes Underpin Human Meningioma |
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Siqi Li, Fred Hutch Cancer Center
Identifying Regulators Of Endogenous Mutagenesis In Vivo |
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Matthias Merkenschlager, Imperial College London
Genetic Interactions Between X-Linked Variants |
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Jung Won Park, KAIST
Idh-Mutant Gliomas Arise From Glial Progenitor Cells Harboring The Initial Driver Mutation |
|
| 4:30–5:00 PM |
Coffee Available |
1st Floor Foyer |
| 5:00–6:45 PM |
Somatic Mosaicism in the Clinic |
Breckenridge Ballroom |
| |
* Stéphanie Baulac, Institut du Cerveau (ICM)
Session Chair |
|
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Jeong Ho Lee, Korea Advanced Institute of Science and Technology
Genetic Diagnosis and Targeted Therapy in Intractable Focal Epilepsy with Somatic Mosaicism |
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Karyn Schmidt, Alnylam Pharmaceuticals
Mechanistic Advances in RNAi Therapeutics Platform, and Implications for Diseases with Somatic Mosaicism |
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Michael Collins, retired from NIH/NIDCR
Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS) with Mosaic Activation of Gsα Protein |
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Neil A Robertson, Mayo Clinic
Short Talk: Mutation Timing And Clonal Structure Complement Fitness In Determining The Clinical Progression Of Clonal Haematopoiesis |
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| 6:45–7:00 PM |
Meeting Wrap-Up: Outcomes and Future Directions (Organizers) |
Breckenridge Ballroom |
| 7:00–8:00 PM |
Social Hour with Lite Bites |
Peaks 1 - 3 |
| 8:00–9:00 PM |
Entertainment |
Colorado Ballroom |
| 8:00–9:00 PM |
Cash Bar |
Peaks 1 - 3 |
Friday, February 21, 2025
