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This meeting took place in 2017
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mRNA Processing and Human Disease (C3)
Organizer(s) James L. Manley, Siddhartha Mukherjee and Gideon Dreyfuss
March 5—8, 2017
Sagebrush Inn & Suites • Taos, NM USA
Discounted Abstract Deadline: Nov 2, 2016
Abstract Deadline: Dec 6, 2016
Scholarship Deadline: Nov 2, 2016
Discounted Registration Deadline: Jan 10, 2017
Supported by the Directors' Fund
Summary of Meeting:
It has been known for decades that defects in mRNA processing can cause, or contribute to, numerous human diseases. The earliest examples of this involved simply mutations in cis-acting signal sequences (e.g., for splicing and polyadenylation) of target genes, for example the human beta globin gene in beta-thalassemia. But the number of diseases linked to defects in mRNA processing has increased dramatically in the last five to ten years, reflecting in large part insights from deep-sequencing efforts. Indeed, other more interesting mechanisms beyond cis-mutations have emerged, including changes in the concentrations of RNA-binding regulatory proteins and other processing factors in, for example cancer, and mutations that affect the function of not only regulatory proteins but also components of the core splicing machinery, which is seen in various cancers as well as several neurodegenerative diseases. The proteins involved function in a variety of aspects of gene expression, including splicing and polyadenylation/ 3’ end formation of mRNA precursors. Although previous meetings have touched on these topics, this will be the first to focus exclusively on links between mRNA processing and human disease. The meeting will bring together two groups that only infrequently overlap: scientists/physicians whose primary interests center on disease but who have become interested in RNA processing as a result, and scientists who study basic mechanisms of RNA processing and gene expression that have proven to be relevant to disease.
View Scholarships/Awards
It has been known for decades that defects in mRNA processing can cause, or contribute to, numerous human diseases. The earliest examples of this involved simply mutations in cis-acting signal sequences (e.g., for splicing and polyadenylation) of target genes, for example the human beta globin gene in beta-thalassemia. But the number of diseases linked to defects in mRNA processing has increased dramatically in the last five to ten years, reflecting in large part insights from deep-sequencing efforts. Indeed, other more interesting mechanisms beyond cis-mutations have emerged, including changes in the concentrations of RNA-binding regulatory proteins and other processing factors in, for example cancer, and mutations that affect the function of not only regulatory proteins but also components of the core splicing machinery, which is seen in various cancers as well as several neurodegenerative diseases. The proteins involved function in a variety of aspects of gene expression, including splicing and polyadenylation/ 3’ end formation of mRNA precursors. Although previous meetings have touched on these topics, this will be the first to focus exclusively on links between mRNA processing and human disease. The meeting will bring together two groups that only infrequently overlap: scientists/physicians whose primary interests center on disease but who have become interested in RNA processing as a result, and scientists who study basic mechanisms of RNA processing and gene expression that have proven to be relevant to disease.
View Scholarships/Awards
No registration fees are used to fund entertainment or alcohol at this conference
The meeting will begin on Sunday, March 5 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Wednesday, March 8 with a closing plenary session from 17:00 to 19:00, followed by a social hour and entertainment. We recommend return travel on Thursday, March 9 in order to fully experience the meeting.
SUNDAY, MARCH 5
MONDAY, MARCH 6
TUESDAY, MARCH 7
WEDNESDAY, MARCH 8
THURSDAY, MARCH 9
Conference Program Print | View meeting in 12 hr (am/pm) time
The meeting will begin on Sunday, March 5 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Wednesday, March 8 with a closing plenary session from 17:00 to 19:00, followed by a social hour and entertainment. We recommend return travel on Thursday, March 9 in order to fully experience the meeting.
SUNDAY, MARCH 5
18:00—20:00
Welcome Mixer
No registration fees are used to fund alcohol served at this function.
08:00—09:00
Welcome and Keynote Address
*
James L. Manley,
Columbia University, USA
Phillip A. Sharp,
Massachusetts Institute of Technology, USA
Forty Years of mRNA Splicing: Then and Now
Forty Years of mRNA Splicing: Then and Now
09:00—11:30
mRNA Splicing and Links to Disease
*
Joan A. Steitz,
Yale University, USA
Juan Valcarcel Juarez,
Centre De Regulacio Genomica, Spain
Networks of Alternative Splicing Regulation in Cancer
Networks of Alternative Splicing Regulation in Cancer
Coffee Break
Maurice S. Swanson,
University of Florida, USA
RNA Mis-Processing in Microsatellite Expansion Disease
RNA Mis-Processing in Microsatellite Expansion Disease
Donald Rio,
University of California, Berkeley, USA
Short Talk: Distinct Synergistic and Additive Effect by Splicing Regulators PSI and hrp48 on the Drosophila Transcriptome
Short Talk: Distinct Synergistic and Additive Effect by Splicing Regulators PSI and hrp48 on the Drosophila Transcriptome
Richard A. Padgett,
Cleveland Clinic, USA
Short Talk: Spliceosomal snRNA Mutations in Human Diseases
Short Talk: Spliceosomal snRNA Mutations in Human Diseases
17:00—19:15
RNPs and Disease
*
Thomas R. Cech,
HHMI/University of Colorado, USA
Gideon Dreyfuss,
HHMI/University of Pennsylvania School of Medicine, USA
Telescripting: Overarching RNP-controlled Gene Expression Mechanism
Telescripting: Overarching RNP-controlled Gene Expression Mechanism
Angus I. Lamond,
University of Dundee, UK
Proteomic Analysis of Cell Transformation and Identification of pre-mRNA Splicing Modulation by a SUMO Protease Inhibitor
Proteomic Analysis of Cell Transformation and Identification of pre-mRNA Splicing Modulation by a SUMO Protease Inhibitor
Joan A. Steitz,
Yale University, USA
Nuclear Noncoding RNAs: More Surprises
Nuclear Noncoding RNAs: More Surprises
Eric Wagner,
University of Texas Medical Branch at Galveston, USA
Short Talk: Human INTS8 Mutations link Brain Development and Transcriptome Integrity to the Integrator Complex
Short Talk: Human INTS8 Mutations link Brain Development and Transcriptome Integrity to the Integrator Complex
Antonia De Maio,
Baylor College of Medicine, USA
Short Talk: Altered RNA homeostasis is prominent in Spinocerebellar Ataxia type 1 (SCA1)
Short Talk: Altered RNA homeostasis is prominent in Spinocerebellar Ataxia type 1 (SCA1)
19:15—20:15
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
08:00—11:15
MDS, Leukemia and Splicing
*
Jonathan S. Weissman,
University of California, San Francisco, USA
Seishi Ogawa,
Kyoto University, Japan
Splicing Factor Mutations in Myeloid Neoplasm with Dysplasia
Splicing Factor Mutations in Myeloid Neoplasm with Dysplasia
Catherine J. Wu,
Dana-Farber Cancer Institute, USA
The Role of SF3B1 Mutations in Chronic Lymphocytic Leukemia
The Role of SF3B1 Mutations in Chronic Lymphocytic Leukemia
Coffee Break
Siddhartha Mukherjee,
Columbia University Medical Center, USA
Splicing Dysregulation in MDS and AML
Splicing Dysregulation in MDS and AML
Omar Abdel-Wahab,
Memorial Sloan Kettering Cancer Center, USA
Understanding and Targeting Spliceosomal Gene Mutations in Leukemia
Understanding and Targeting Spliceosomal Gene Mutations in Leukemia
Will G. Fairbrother,
Brown University, USA
Short Talk: Disease-Causing Exonic Variations Frequently Affect Pre-mRNA Splicing
Short Talk: Disease-Causing Exonic Variations Frequently Affect Pre-mRNA Splicing
Liang Fei,
Weill Cornell Medicine, USA
Short Talk: Molecular and Physiological Consequences of Mutant U2AF1 Genetically-Engineered Mice ana in Human Lung Cell Lines
Short Talk: Molecular and Physiological Consequences of Mutant U2AF1 Genetically-Engineered Mice ana in Human Lung Cell Lines
17:00—19:00
RNA-Based Therapeutic Approaches
*
Juan Valcarcel Juarez,
Centre De Regulacio Genomica, Spain
Adrian R. Krainer,
Cold Spring Harbor Laboratory, USA
Mechanism-Based Antisense Therapy for Spinal Muscular Atrophy
Mechanism-Based Antisense Therapy for Spinal Muscular Atrophy
Jonathan S. Weissman,
University of California, San Francisco, USA
RNA-Based Approaches to Cancer
RNA-Based Approaches to Cancer
Masatoshi Hagiwara,
Kyoto University, Japan
RBM24 is a Tissue-Specific Cryptic Splicing Enhancer of the IKBKAP Gene in Familial Dysautonomia
RBM24 is a Tissue-Specific Cryptic Splicing Enhancer of the IKBKAP Gene in Familial Dysautonomia
Julia Salzman,
Stanford University School of Medicine, USA
Short Talk: Precise Statistical Algorithms Reveal Novel Gene Fusions: Potential Oncogenic Defects in RNA Regulation
Short Talk: Precise Statistical Algorithms Reveal Novel Gene Fusions: Potential Oncogenic Defects in RNA Regulation
19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.
08:00—11:00
Splicing and ALS and Other Diseases
*
Maurice S. Swanson,
University of Florida, USA
Thomas R. Cech,
HHMI/University of Colorado, USA
PRC2-mRNA Interactions, Epigenetic Silencing and Cancer
PRC2-mRNA Interactions, Epigenetic Silencing and Cancer
Ashleigh E. Schaffer,
Case Western Reserve University, USA
Short Talk: Biallelic Mutations in the Nuclear 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing
Short Talk: Biallelic Mutations in the Nuclear 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing
James L. Manley,
Columbia University, USA
Disregulation of Gene Expression by the C9ORF72 Expansion Contributes to ALS
Disregulation of Gene Expression by the C9ORF72 Expansion Contributes to ALS
Coffee Break
Devdoot Majumdar,
California Institute of Technology, USA
Short Talk: Understanding the Roles of Retained/Detained/Bottelneck Introns in Inflammation
Short Talk: Understanding the Roles of Retained/Detained/Bottelneck Introns in Inflammation
Frédéric L. Chedin,
University of California, Davis, USA
Short Talk: SF3B, K700E Mutations Trigger Global R-Loop Loss in Genes Undergoing Alternative Splicing
Short Talk: SF3B, K700E Mutations Trigger Global R-Loop Loss in Genes Undergoing Alternative Splicing
Clotilde Lagier-Tourenne,
Massachusetts General Hospital, USA
Short Talk: Using RNA Processing Alterations for Disease Modeling and Therapeutic Development in ALS/FTD
Short Talk: Using RNA Processing Alterations for Disease Modeling and Therapeutic Development in ALS/FTD
17:00—18:45
Further Links between RNA Processing and Disease
*
Robert B. Darnell,
HHMI/Rockefeller University, USA
Catriona H.M. Jamieson,
University of California, San Diego, USA
Deciphering the Role of Epitranscriptomic Deregulation in Leukemia Stem Cell Generation
Deciphering the Role of Epitranscriptomic Deregulation in Leukemia Stem Cell Generation
Lynne E. Maquat,
University of Rochester Medical Center, USA
Tudor-SN-Mediated Endonucleolytic Decay of Human-Cell-Micro RNAs Promotes GI-to-S Phase Transition
Tudor-SN-Mediated Endonucleolytic Decay of Human-Cell-Micro RNAs Promotes GI-to-S Phase Transition
Nikolaus Rajewsky,
Max Delbruck Center for Molecular Medicine, Germany
Knocking Out an RNS Circle in the Mouse Brain and Some Fun Stuff, ALL Unpublished
Knocking Out an RNS Circle in the Mouse Brain and Some Fun Stuff, ALL Unpublished
20:00—23:00
Entertainment
Entertainment is not subsidized by conference registration fees nor any U.S. federal government grants. Funding for this expense is provided by other revenue sources.
*Session Chair †Invited, not yet responded.
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