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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, New Mexico 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.

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No registration fees are used to fund entertainment or alcohol at this conference

Conference Program    Print  |   View meeting in 24 hr (international) 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

4:00—8:00 PM
Arrival and Registration

Sagebrush Lobby & Cantina
6:00—8:00 PM
Welcome Mixer
No registration fees are used to fund alcohol served at this function.

Sagebrush Lobby & Cantina

MONDAY, MARCH 6

7:00—8:00 AM
Breakfast

Sagebrush Lobby & Cantina
8:00—9:00 AM
Welcome and Keynote Address
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
* James L. Manley, Columbia University, USA

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

9:00—11:30 AM
mRNA Splicing and Links to Disease
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
* Joan A. Steitz, HHMI, Yale University, USA

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

Coffee Break

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

Maurice S. Swanson, University of Florida, USA
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

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

11:30 AM—5:00 PM
On Own for Lunch

11:30 AM—1:00 PM
Poster Setup

Chamisa Ballroom 2
1:00—10:00 PM
Poster Viewing

Chamisa Ballroom 2
4:30—5:00 PM
Coffee Available

Chamisa Lobby
5:00—7:15 PM
RNPs and Disease
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
* 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

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

Joan A. Steitz, HHMI, Yale University, USA
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

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

7:15—8:15 PM
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Chamisa Ballroom 2
7:30—10:00 PM
Poster Session 1

Chamisa Ballroom 2

TUESDAY, MARCH 7

7:00—8:00 AM
Breakfast

Sagebrush Lobby & Cantina
8:00—11:15 AM
MDS, Leukemia and Splicing
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
* Jonathan S. Weissman, University of California, San Francisco, USA

Seishi Ogawa, Kyoto University, Japan
Splicing Factor Mutations in Myeloid Neoplasm with Dysplasia

Catherine Ju-Ying Wu, Dana-Farber Cancer Institute, USA
The Role of SF3B1 Mutations in Chronic Lymphocytic Leukemia

Coffee Break

Siddhartha Mukherjee, Columbia University Medical Center, USA
Splicing Dysregulation in MDS and AML

Omar Abdel-Wahab, Memorial Sloan Kettering Cancer Center, USA
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

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

11:15 AM—5:00 PM
On Own for Lunch

11:15 AM—1:00 PM
Poster Setup

Chamisa Ballroom 2
1:00—10:00 PM
Poster Viewing

Chamisa Ballroom 2
4:30—5:00 PM
Coffee Available

Chamisa Lobby
5:00—7:00 PM
RNA-Based Therapeutic Approaches
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
* Juan Valcarcel Juarez, Centre De Regulacio Genomica, Spain

Adrian Krainer, Cold Spring Harbor Laboratories, USA
Mechanism-Based Antisense Therapy for Spinal Muscular Atrophy

Jonathan S. Weissman, University of California, San Francisco, USA
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

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

7:00—8:00 PM
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Chamisa Ballroom 2
7:30—10:00 PM
Poster Session 2

Chamisa Ballroom 2

WEDNESDAY, MARCH 8

7:00—8:00 AM
Breakfast

Sagebrush Lobby & Cantina
8:00—11:00 AM
Splicing and ALS and Other Diseases
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
* Maurice S. Swanson, University of Florida, USA

Thomas R. Cech, HHMI/University of Colorado, USA
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

James L. Manley, Columbia University, USA
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

Frédéric L. Chedin, University of California, Davis, USA
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

11:00 AM—5:00 PM
On Own for Lunch

4:30—5:00 PM
Coffee Available

Chamisa Lobby
5:00—6:45 PM
Further Links between RNA Processing and Disease
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
* 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

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

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

6:45—7:00 PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Meeting has ended...abstracts no longer viewable online.

Chamisa Ballroom 1
7:00—8:00 PM
Social Hour with Lite Bites

Chamisa Ballroom 2
8:00—11:00 PM
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.

Chamisa Ballroom 2

THURSDAY, MARCH 9

 
Departure


*Session Chair †Invited, not yet responded.



We gratefully acknowledge support for this conference from:


Directors' Fund


These generous unrestricted gifts allow our Directors to schedule meetings in a wide variety of important areas, many of which are in the early stages of research.

Click here to view all of the donors who support the Directors' Fund.



We gratefully acknowledge additional support for this conference from:

eLife Exiqon 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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If your organization is interested in joining these entities in support of Keystone Symposia, please contact: Sarah Lavicka, Assistant Director of Development, Email: sarahl@keystonesymposia.org,
Phone:+1 970-262-2690

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If you are interested in becoming an advertising/marketing in-kind partner, please contact:
Yvonne Psaila, Director, Marketing and Communications, Email: yvonnep@keystonesymposia.org,
Phone:+1 970-262-2676