Somatic Mosaicism in Human Development, Aging, and Diseases
Feb 17–20, 2025 | Beaver Run Conference Center, Breckenridge, CO, United States
Scientific Organizers:
Jeong Ho Lee, E. Alice Lee and Peter Campbell
In Person
On Demand
Feb 17–20, 2025 | Beaver Run Conference Center, Breckenridge, CO, United States
Scientific Organizers:
Jeong Ho Lee, E. Alice Lee and Peter Campbell
Available Formats:
Supported by the Directors' Fund
In Person
On Demand
***Meeting program subject to change.
Available Formats: = In Person = On DemandMonday, February 17, 2025
Fundraising
Booking Function
Merchandise Options
Registration Options
Registration
4:00–8:00 PM
3rd Floor Foyer
Welcome Mixer
6:00–8:00 PM
3rd Floor Foyer
Tuesday, February 18, 2025
Breakfast
7:00–8:00 AM
Summit Gallery
Welcome and Keynote Address
8:00–9:00 AM
Breckenridge Ballroom
* Jeong Ho Lee, Korea Advanced Institute of Science and Technology
Session Chair
Session Chair
Christopher A Walsh, Boston Children's Hospital/HHMI
Somatic Mosaicism in Human Brain Development and Aging
Somatic Mosaicism in Human Brain Development and Aging
Developmental and Aging Process
9:00–12:00 PM
Breckenridge Ballroom
* Jeong Ho Lee, Korea Advanced Institute of Science and Technology
Session Chair
Session Chair
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
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
Young Ju, Korea Advanced Institute of Science and Technology
Genomic and Epigenetic Mosaicism in Human Early Embryogenesis
Genomic and Epigenetic Mosaicism in Human Early Embryogenesis
Jan Vijg, Albert Einstein College of Medicine
Role of Somatic Mutations in Aging and Disease
Role of Somatic Mutations in Aging and Disease
Ana Cvejic, University of Copenhagen
Mosaicism in the Development and Aging of Hematopoietic Organs
Mosaicism in the Development and Aging of Hematopoietic Organs
Lori D Kregar, Wellcome Sanger Institute
Short Talk: Somatic Methylation Mosaicism in Ageing And Disease
Short Talk: Somatic Methylation Mosaicism in Ageing And Disease
Diane D Shao, Boston Children's Hospital
Short Talk: Widespread Genetically Aberrant Neurons During Human Neurodevelopment Revealed Through Single Nuclei Sequencing
Short Talk: Widespread Genetically Aberrant Neurons During Human Neurodevelopment Revealed Through Single Nuclei Sequencing
Coffee Break
9:30–9:50 AM
1st Floor Foyer
Poster Setup
12:00–1:00 PM
Peaks 1 - 3
On Own for Lunch
12:00–2:30 PM
Poster Viewing
1:00–10:00 PM
Peaks 1 - 3
Symposia Spotlight 1: SMaHT Network Training Workshop
2:45–4:30 PM
Breckenridge Ballroom
* Soren Germer, New York Genome Center
Session Chair
Session Chair
James Bennett, Seattle Childrens Research Institute
Introduction to the Somatic Mosaicism Across Human Tissues (SMaHT) Network
Introduction to the Somatic Mosaicism Across Human Tissues (SMaHT) Network
Alexej Abyzov, Mayo Clinic
SMaHT Benchmarking Design
SMaHT Benchmarking Design
Elizabeth Chun, Harvard Medical School
Data Analysis Center Of The Somatic Mosaicism Across Human Tissues (Smaht) Network
Data Analysis Center Of The Somatic Mosaicism Across Human Tissues (Smaht) Network
Min-Hwan Sohn, University of Washington
Telomere-To-Telomere Mapping Of Cancer Somatic Variants And Their Functional Impact On Chromatin
Telomere-To-Telomere Mapping Of Cancer Somatic Variants And Their Functional Impact On Chromatin
Jiny Ha, Harvard Medical School
Accurate Characterization Of Mosaic Small Variants In Human Genome
Accurate Characterization Of Mosaic Small Variants In Human Genome
Boxun Zhao, Boston Children's Hospital
Enhanced HAT-Seq Reveals Developmental Somatic L1 Insertion Clones in Ataxia-Telangiectasia Brains
Enhanced HAT-Seq Reveals Developmental Somatic L1 Insertion Clones in Ataxia-Telangiectasia Brains
Andrea Kriz, Boston Children's Hospital/Harvard Medical School
Duplex-Multiome Discovers Somatic Mutation Patterns And Impact Across Cell Types
Duplex-Multiome Discovers Somatic Mutation Patterns And Impact Across Cell Types
Coffee Available
4:30–5:00 PM
1st Floor Foyer
Mechanism and Modeling of Somatic Mosaicism
5:00–7:00 PM
Breckenridge Ballroom
* Peter J. Park, Harvard Medical School
Session Chair
Session Chair
E. Alice Lee, Boston Children's Hospital & Harvard Medical School
Retrotransposon as a Non-Canonical Mechanism Driving Somatic Mosaicism
Retrotransposon as a Non-Canonical Mechanism Driving Somatic Mosaicism
Kristin Baldwin, Columbia University
Modeling Somatic Mosaicism in iPSCs
Modeling Somatic Mosaicism in iPSCs
Helen Bateup, University of California, Berkeley
Modeling Somatic Mosaicism in Brain Organoids
Modeling Somatic Mosaicism in Brain Organoids
Hyun Young Jung, KAIST
Short Talk: Somatic Slc35a2 Mosaicism Drives Novel Glycoprotein Production Causing Intractable Epilepsy With Oligodendrocyte Dysfunction
Short Talk: Somatic Slc35a2 Mosaicism Drives Novel Glycoprotein Production Causing Intractable Epilepsy With Oligodendrocyte Dysfunction
Jacey Pridgen, Baylor College of Medicine
Short Talk: DNMT3A Loss Dysregulates Hematoendothelial Differentiation in The Mosaic Context
Short Talk: DNMT3A Loss Dysregulates Hematoendothelial Differentiation in The Mosaic Context
Social Hour with Lite Bites
7:00–8:00 PM
Peaks 1 - 3
Poster Session 1
7:30–10:00 PM
Peaks 1 - 3
Wednesday, February 19, 2025
Breakfast
7:00–8:00 AM
Summit Gallery
Technology and Tool Development
8:00–11:00 AM
Breckenridge Ballroom
* Peter Campbell, Wellcome Trust Sanger Institute
Session Chair
Session Chair
* Nuria Lopez-Bigas, IRB Barcelona
Session Chair
Session Chair
Gilad Evrony, NYU Grossman School of Medicine
Advancing the Fidelity and Speed of Somatic Mutation Detection
Advancing the Fidelity and Speed of Somatic Mutation Detection
Sangwoo Kim, Yonsei University
Benchmarking Tools to Detect Low-Level somatic Mosaicism
Benchmarking Tools to Detect Low-Level somatic Mosaicism
Peter J. Park, Harvard Medical School
A Pan-Tissue Survey of Mosaic Chromosomal Alterations
A Pan-Tissue Survey of Mosaic Chromosomal Alterations
Laura Mincarelli, Wellcome Sanger Institute
Short Talk: Investigating Clonal Haematopoiesis Using A Novel Single Cell Multi-Omic Approach
Short Talk: Investigating Clonal Haematopoiesis Using A Novel Single Cell Multi-Omic Approach
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
Short Talk: Accelerating Discovery Of Chronic Disease-Associated Driver Genes By Detecting Somatic Mutations From Bulk Rna-Seq Data
Michael A. Lodato, University of Massachusetts Chan Medical School
Short Talk: Linking Single-Cell Transcriptomic And Genomic Changes In The Aging Human Brain
Short Talk: Linking Single-Cell Transcriptomic And Genomic Changes In The Aging Human Brain
Yanmei Dou, Westlake University
Short Talk: Advanced Bioinformatics Tools For Somatic Mosaicism Analysis And Visualization
Short Talk: Advanced Bioinformatics Tools For Somatic Mosaicism Analysis And Visualization
Coffee Break
9:00–9:20 AM
1st Floor Foyer
Award Recipient Acknowledgement
9:20–9:25 AM
Breckenridge Ballroom
Poster Setup
11:00–1:00 PM
Peaks 1 - 3
On Own for Lunch
11:00–5:00 PM
Poster Viewing
1:00–10:00 PM
Peaks 1 - 3
Career Roundtable (Joint)
3:30–4:30 PM
Colorado Ballroom
Hao Zhu, University of Texas Southwestern Medical Center
Associate Professor & Attending Physician
Associate Professor & Attending Physician
Cindy Guidi, AstraZeneca
Principal Scientist
Principal Scientist
Mitchell Lee, Ora Biomedical, Inc.
Michael J Corley, Weill Cornell Medicine
Associate Professor
Associate Professor
Coffee Available
4:30–5:00 PM
1st Floor Foyer
Cancer Evolution
5:00–7:00 PM
Breckenridge Ballroom
* Richard A. Gibbs, Baylor College of Medicine
Session Chair
Session Chair
Peter Campbell, Wellcome Trust Sanger Institute
Somatic Mosaicism in Premalignant State and Cancer Evolution
Somatic Mosaicism in Premalignant State and Cancer Evolution
Nuria Lopez-Bigas, IRB Barcelona
Clonal Selection in Normal Tissues and its Relation to Cancer Risk
Clonal Selection in Normal Tissues and its Relation to Cancer Risk
Kelly Bolton, Washington University
Clonal Hematopoiesis Impacting Cancer Evolution and Therapy
Clonal Hematopoiesis Impacting Cancer Evolution and Therapy
Tim Coorens, Broad Institute of MIT and Harvard
Short Talk: The Somatic Mutation Landscape Of Normal Gastric Epithelium
Short Talk: The Somatic Mutation Landscape Of Normal Gastric Epithelium
Irene Franco, San-Raffaele University Milan
Short Talk: Tracking Kidney Cancer Initiation Via Somatic Mutation Analysis Of Normal Kidney Cells
Short Talk: Tracking Kidney Cancer Initiation Via Somatic Mutation Analysis Of Normal Kidney Cells
Social Hour with Lite Bites
7:00–8:00 PM
Peaks 1 - 3
Poster Session 2
7:30–10:00 PM
Peaks 1 - 3
Thursday, February 20, 2025
Breakfast
7:00–8:00 AM
Summit Gallery
Non-Malignant Diseases
8:00–11:00 AM
Breckenridge Ballroom
* Gilad Evrony, NYU Grossman School of Medicine
Session Chair
Session Chair
* Young Ju, Korea Advanced Institute of Science and Technology
Session Chair
Session Chair
Stéphanie Baulac, Institut du Cerveau (ICM)
Somatic Mosaicism in Epileptogenesis
Somatic Mosaicism in Epileptogenesis
Frederic Geissmann, Memorial Sloan Kettering Cancer Center
Oncogenic Somatic Mosaicism in Neurodegenerative Disorders
Oncogenic Somatic Mosaicism in Neurodegenerative Disorders
Hao Zhu, University of Texas Southwestern Medical Center
Somatic Mosaicism and Clonal Selection in Metabolic Liver Disease
Somatic Mosaicism and Clonal Selection in Metabolic Liver Disease
Satu Mustjoki, University of Helsinki
Somatic Mosaicism in Immune Cells and Autoimmune Disease
Somatic Mosaicism in Immune Cells and Autoimmune Disease
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
Short Talk: Alzheimer’s Disease Microglia Exhibit An Enrichment Of Somatic Cancer Driver Mutations, Correlating With Disease-Associated Inflammatory States
Giovanna Mantica, University of Cambridge
Short Talk: Dnmt3a R882 Mutation Alters Clonal And Myeloid Differentiation Dynamics Of Human Haematopoietic Stem Cells
Short Talk: Dnmt3a R882 Mutation Alters Clonal And Myeloid Differentiation Dynamics Of Human Haematopoietic Stem Cells
Coffee Break
9:00–9:20 AM
1st Floor Foyer
On Own for Lunch
11:00–2:30 PM
Symposia Spotlight 2: Late-breaking research presentations selected from abstract submissions
2:30–4:30 PM
Breckenridge Ballroom
* Kristin Baldwin, Columbia University
Session Chair
Session Chair
* Hao Zhu, University of Texas Southwestern Medical Center
Session Chair
Session Chair
Juliette Kamp, Erasmus MC
Elucidating The Human Brain-Specific Response To Dna Breaks: Monitoring Rna-Templated Dna Repair In Human Neurons
Elucidating The Human Brain-Specific Response To Dna Breaks: Monitoring Rna-Templated Dna Repair In Human Neurons
Sattar Khoshkhoo, Brigham and Women's Hospital
Hippocampal Somatic Variants Activating Ras-Mapk Signaling Contribute To Drug-Resistant Focal Epilepsy Through Clonal Selection
Hippocampal Somatic Variants Activating Ras-Mapk Signaling Contribute To Drug-Resistant Focal Epilepsy Through Clonal Selection
Martin Breuss, University of Colorado Anschutz Medical Campus
The Origin, Impact, And Utility Of Mosaicism Analysis In Sperm
The Origin, Impact, And Utility Of Mosaicism Analysis In Sperm
Sangita Choudhury, Boston Children's Hospital
Single-Nucleus Multi-Omic Profiling Of Polyploid Heart Nuclei Identifies Fusion-Derived Cardiomyocytes In Human Heart
Single-Nucleus Multi-Omic Profiling Of Polyploid Heart Nuclei Identifies Fusion-Derived Cardiomyocytes In Human Heart
Seok-Gu Kang, Severance Hospital, Yonsei University College of Medicine
Low-Level Developmental Mosaicism Of Driver Genes Underpin Human Meningioma
Low-Level Developmental Mosaicism Of Driver Genes Underpin Human Meningioma
Siqi Li, Fred Hutch Cancer Center
Identifying Regulators Of Endogenous Mutagenesis In Vivo
Identifying Regulators Of Endogenous Mutagenesis In Vivo
Matthias Merkenschlager, Imperial College London
Genetic Interactions Between X-Linked Variants
Genetic Interactions Between X-Linked Variants
Jung Won Park, KAIST
Idh-Mutant Gliomas Arise From Glial Progenitor Cells Harboring The Initial Driver Mutation
Idh-Mutant Gliomas Arise From Glial Progenitor Cells Harboring The Initial Driver Mutation
Coffee Available
4:30–5:00 PM
1st Floor Foyer
Somatic Mosaicism in the Clinic
5:00–6:45 PM
Breckenridge Ballroom
* Stéphanie Baulac, Institut du Cerveau (ICM)
Session Chair
Session Chair
Jeong Ho Lee, Korea Advanced Institute of Science and Technology
Genetic Diagnosis and Targeted Therapy in Intractable Focal Epilepsy with Somatic Mosaicism
Genetic Diagnosis and Targeted Therapy in Intractable Focal Epilepsy with Somatic Mosaicism
Karyn Schmidt, Alnylam Pharmaceuticals
Mechanistic Advances in RNAi Therapeutics Platform, and Implications for Diseases with Somatic Mosaicism
Mechanistic Advances in RNAi Therapeutics Platform, and Implications for Diseases with Somatic Mosaicism
Michael Collins, retired from NIH/NIDCR
Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS) with Mosaic Activation of Gsα Protein
Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS) with Mosaic Activation of Gsα Protein
Neil A Robertson, Mayo Clinic
Short Talk: Mutation Timing And Clonal Structure Complement Fitness In Determining The Clinical Progression Of Clonal Haematopoiesis
Short Talk: Mutation Timing And Clonal Structure Complement Fitness In Determining The Clinical Progression Of Clonal Haematopoiesis
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
6:45–7:00 PM
Breckenridge Ballroom
Social Hour with Lite Bites
7:00–8:00 PM
Peaks 1 - 3
Entertainment
8:00–9:00 PM
Colorado Ballroom
Cash Bar
8:00–9:00 PM
Peaks 1 - 3
Friday, February 21, 2025
Departure
12:00–11:59 PM
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