Web Desc
mRNA Processing and Human Disease
Organizer(s): James L. Manley, Siddhartha Mukherjee and Gideon Dreyfuss
Date: March 05 - 08, 2017
Location: Sagebrush Inn & Suites, Taos, NM, USA
Supported by the Directors' Fund
For important information on the coronavirus, please click here
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.
Scholarship Deadline: November 2 2016
Discounted Abstract Deadline: November 2 2016
Abstract Deadline: December 6 2016
Discounted Registration Deadline: January 10 2017
Abstract submission is now closed. Registered attendees may bring a poster onsite. Please contact our office at +1 800-253-0685; +1 970-262-1230 or email info@keystonesymposia.org if you are interested.


We gratefully acknowledge additional support for this conference from:
eLifeExiqon A/S
We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:

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Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

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Program

Sunday, March 05 | 4:00PM - 8:00PM
Arrival and Registration
Room: Sagebrush Lobby & Cantina


Sunday, March 05 | 6:00PM - 8:00PM
Welcome Mixer
Room: Sagebrush Lobby & Cantina
No registration fees are used to fund alcohol served at this function.

Monday, March 06 | 7:00AM - 8:00AM
Breakfast
Room: Sagebrush Lobby & Cantina


Monday, March 06 | 8:00AM - 9:00AM
Welcome and Keynote Address
Room: Chamisa Ballroom 1

Speaker 1 of 2
* James L. Manley, Columbia University, USA

Monday, March 06 | 8:00AM - 9:00AM
Welcome and Keynote Address
Room: Chamisa Ballroom 1

Speaker 2 of 2
Phillip A. Sharp, Massachusetts Institute of Technology, USA
Forty Years of mRNA Splicing: Then and Now

Monday, March 06 | 9:00AM - 11:30AM
mRNA Splicing and Links to Disease
Room: Chamisa Ballroom 1

Speaker 1 of 7
* Joan A. Steitz, Yale University, USA

Monday, March 06 | 9:00AM - 11:30AM
mRNA Splicing and Links to Disease
Room: Chamisa Ballroom 1

Speaker 2 of 7
Juan Valcarcel Juarez, Centre De Regulacio Genomica, Spain
Networks of Alternative Splicing Regulation in Cancer

Monday, March 06 | 9:00AM - 11:30AM
mRNA Splicing and Links to Disease
Room: Chamisa Ballroom 1


Coffee Break

Monday, March 06 | 9:00AM - 11:30AM
mRNA Splicing and Links to Disease
Room: Chamisa Ballroom 1

Speaker 4 of 7
Robert B. Darnell, HHMI/Rockefeller University, USA
CLIPing RNA Regulatory Elements in Disease

Monday, March 06 | 9:00AM - 11:30AM
mRNA Splicing and Links to Disease
Room: Chamisa Ballroom 1

Speaker 5 of 7
Maurice S. Swanson, University of Florida, USA
RNA Mis-Processing in Microsatellite Expansion Disease

Monday, March 06 | 9:00AM - 11:30AM
mRNA Splicing and Links to Disease
Room: Chamisa Ballroom 1

Speaker 6 of 7
Donald Rio, University of California, Berkeley, USA
Short Talk: Distinct Synergistic and Additive Effect by Splicing Regulators PSI and hrp48 on the Drosophila Transcriptome

Monday, March 06 | 9:00AM - 11:30AM
mRNA Splicing and Links to Disease
Room: Chamisa Ballroom 1

Speaker 7 of 7
Richard A. Padgett, Cleveland Clinic, USA
Short Talk: Spliceosomal snRNA Mutations in Human Diseases

Monday, March 06 | 11:30AM - 5:00PM
On Own for Lunch


Monday, March 06 | 11:30AM - 1:00PM
Poster Setup
Room: Chamisa Ballroom 2


Monday, March 06 | 1:00PM - 10:00PM
Poster Viewing
Room: Chamisa Ballroom 2


Monday, March 06 | 4:30PM - 5:00PM
Coffee Available
Room: Chamisa Lobby


Monday, March 06 | 5:00PM - 7:15PM
RNPs and Disease
Room: Chamisa Ballroom 1

Speaker 1 of 6
* Thomas R. Cech, HHMI/University of Colorado, USA

Monday, March 06 | 5:00PM - 7:15PM
RNPs and Disease
Room: Chamisa Ballroom 1

Speaker 2 of 6
Gideon Dreyfuss, HHMI/University of Pennsylvania School of Medicine, USA
Telescripting: Overarching RNP-controlled Gene Expression Mechanism

Monday, March 06 | 5:00PM - 7:15PM
RNPs and Disease
Room: Chamisa Ballroom 1

Speaker 3 of 6
Angus I. Lamond, University of Dundee, UK
Proteomic Analysis of Cell Transformation and Identification of pre-mRNA Splicing Modulation by a SUMO Protease Inhibitor

Monday, March 06 | 5:00PM - 7:15PM
RNPs and Disease
Room: Chamisa Ballroom 1

Speaker 4 of 6
Joan A. Steitz, Yale University, USA
Nuclear Noncoding RNAs: More Surprises

Monday, March 06 | 5:00PM - 7:15PM
RNPs and Disease
Room: Chamisa Ballroom 1

Speaker 5 of 6
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

Monday, March 06 | 5:00PM - 7:15PM
RNPs and Disease
Room: Chamisa Ballroom 1

Speaker 6 of 6
Antonia De Maio, Baylor College of Medicine, USA
Short Talk: Altered RNA homeostasis is prominent in Spinocerebellar Ataxia type 1 (SCA1)

Monday, March 06 | 7:15PM - 8:15PM
Social Hour with Lite Bites
Room: Chamisa Ballroom 2
No registration fees are used to fund alcohol served at this function.

Monday, March 06 | 7:30PM - 10:00PM
Poster Session 1
Room: Chamisa Ballroom 2


Tuesday, March 07 | 7:00AM - 8:00AM
Breakfast
Room: Sagebrush Lobby & Cantina


Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1

Speaker 1 of 8
* Jonathan S. Weissman, University of California, San Francisco, USA

Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1

Speaker 2 of 8
Seishi Ogawa, Kyoto University, Japan
Splicing Factor Mutations in Myeloid Neoplasm with Dysplasia

Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1

Speaker 3 of 8
Catherine J. Wu, Dana-Farber Cancer Institute, USA
The Role of SF3B1 Mutations in Chronic Lymphocytic Leukemia

Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1


Coffee Break

Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1

Speaker 5 of 8
Siddhartha Mukherjee, Columbia University Medical Center, USA
Splicing Dysregulation in MDS and AML

Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1

Speaker 6 of 8
Omar Abdel-Wahab, Memorial Sloan Kettering Cancer Center, USA
Understanding and Targeting Spliceosomal Gene Mutations in Leukemia

Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1

Speaker 7 of 8
Will G. Fairbrother, Brown University, USA
Short Talk: Disease-Causing Exonic Variations Frequently Affect Pre-mRNA Splicing

Tuesday, March 07 | 8:00AM - 11:15AM
MDS, Leukemia and Splicing
Room: Chamisa Ballroom 1

Speaker 8 of 8
Liang Fei, Weill Cornell Medicine, USA
Short Talk: Molecular and Physiological Consequences of Mutant U2AF1 Genetically-Engineered Mice ana in Human Lung Cell Lines

Tuesday, March 07 | 11:15AM - 5:00PM
On Own for Lunch


Tuesday, March 07 | 11:15AM - 1:00PM
Poster Setup
Room: Chamisa Ballroom 2


Tuesday, March 07 | 1:00PM - 10:00PM
Poster Viewing
Room: Chamisa Ballroom 2


Tuesday, March 07 | 4:30PM - 5:00PM
Coffee Available
Room: Chamisa Lobby


Tuesday, March 07 | 5:00PM - 7:00PM
RNA-Based Therapeutic Approaches
Room: Chamisa Ballroom 1

Speaker 1 of 5
* Juan Valcarcel Juarez, Centre De Regulacio Genomica, Spain

Tuesday, March 07 | 5:00PM - 7:00PM
RNA-Based Therapeutic Approaches
Room: Chamisa Ballroom 1

Speaker 2 of 5
Adrian R. Krainer, Cold Spring Harbor Laboratory, USA
Mechanism-Based Antisense Therapy for Spinal Muscular Atrophy

Tuesday, March 07 | 5:00PM - 7:00PM
RNA-Based Therapeutic Approaches
Room: Chamisa Ballroom 1

Speaker 3 of 5
Jonathan S. Weissman, University of California, San Francisco, USA
RNA-Based Approaches to Cancer

Tuesday, March 07 | 5:00PM - 7:00PM
RNA-Based Therapeutic Approaches
Room: Chamisa Ballroom 1

Speaker 4 of 5
Masatoshi Hagiwara, Kyoto University, Japan
RBM24 is a Tissue-Specific Cryptic Splicing Enhancer of the IKBKAP Gene in Familial Dysautonomia


Tuesday, March 07 | 5:00PM - 7:00PM
RNA-Based Therapeutic Approaches
Room: Chamisa Ballroom 1

Speaker 5 of 5
Julia Salzman, Stanford University School of Medicine, USA
Short Talk: Precise Statistical Algorithms Reveal Novel Gene Fusions: Potential Oncogenic Defects in RNA Regulation

Tuesday, March 07 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Chamisa Ballroom 2
No registration fees are used to fund alcohol served at this function.

Tuesday, March 07 | 7:30PM - 10:00PM
Poster Session 2
Room: Chamisa Ballroom 2


Wednesday, March 08 | 7:00AM - 8:00AM
Breakfast
Room: Sagebrush Lobby & Cantina


Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1

Speaker 1 of 8
* Maurice S. Swanson, University of Florida, USA

Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1

Speaker 2 of 8
Thomas R. Cech, HHMI/University of Colorado, USA
PRC2-mRNA Interactions, Epigenetic Silencing and Cancer

Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1

Speaker 3 of 8
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

Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1

Speaker 4 of 8
James L. Manley, Columbia University, USA
Disregulation of Gene Expression by the C9ORF72 Expansion Contributes to ALS

Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1


Coffee Break

Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1

Speaker 6 of 8
Devdoot Majumdar, California Institute of Technology, USA
Short Talk: Understanding the Roles of Retained/Detained/Bottelneck Introns in Inflammation

Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1

Speaker 7 of 8
Frédéric L. Chedin, University of California, Davis, USA
Short Talk: SF3B, K700E Mutations Trigger Global R-Loop Loss in Genes Undergoing Alternative Splicing

Wednesday, March 08 | 8:00AM - 11:00AM
Splicing and ALS and Other Diseases
Room: Chamisa Ballroom 1

Speaker 8 of 8
Clotilde Lagier-Tourenne, Massachusetts General Hospital, USA
Short Talk: Using RNA Processing Alterations for Disease Modeling and Therapeutic Development in ALS/FTD

Wednesday, March 08 | 11:00AM - 5:00PM
On Own for Lunch


Wednesday, March 08 | 4:30PM - 5:00PM
Coffee Available
Room: Chamisa Lobby


Wednesday, March 08 | 5:00PM - 6:45PM
Further Links between RNA Processing and Disease
Room: Chamisa Ballroom 1

Speaker 1 of 4
* Robert B. Darnell, HHMI/Rockefeller University, USA

Wednesday, March 08 | 5:00PM - 6:45PM
Further Links between RNA Processing and Disease
Room: Chamisa Ballroom 1

Speaker 2 of 4
Catriona H.M. Jamieson, University of California, San Diego, USA
Deciphering the Role of Epitranscriptomic Deregulation in Leukemia Stem Cell Generation

Wednesday, March 08 | 5:00PM - 6:45PM
Further Links between RNA Processing and Disease
Room: Chamisa Ballroom 1

Speaker 3 of 4
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

Wednesday, March 08 | 5:00PM - 6:45PM
Further Links between RNA Processing and Disease
Room: Chamisa Ballroom 1

Speaker 4 of 4
Nikolaus Rajewsky, Max Delbruck Center for Molecular Medicine, Germany
Knocking Out an RNS Circle in the Mouse Brain and Some Fun Stuff, ALL Unpublished

Wednesday, March 08 | 6:45PM - 7:00PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Room: Chamisa Ballroom 1


Wednesday, March 08 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Chamisa Ballroom 2


Wednesday, March 08 | 8:00PM - 11:00PM
Entertainment
Room: Chamisa Ballroom 2
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.

Wednesday, March 08 | 8:00PM - 11:00PM
Cash Bar
Room: Chamisa Ballroom 2


Thursday, March 09 | 10:24AM - 10:24AM
Departure


*Session Chair
†Invited, not yet responded.