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CAG Triplet Repeat Disorders
Gordon Research Conference

CAG Triplet Repeat Diseases: Common Principles and Unique Mechanisms

Dates

June 4-9, 2017

Location

Mount Snow
West Dover, VT

Organizers

Chair:
Erich E. Wanker

Vice Chair:
Christopher A. Ross

Meeting Description

The CAG Triplet Repeat Disorders are a group of largely untreatable, heritable neurological disorders, which result from an expansion in a CAG trinucleotide repeat in mutant genes. They include Huntington's disease (HD), spinal and bulbar muscular atrophy (SBMA, Kennedy's disease), several spinocerebellar ataxias, and dentatorubropallidoluysian atrophy (DRPLA). Extended CAG repeats in the coding regions of genes result in abnormally long polyglutamine tracts in the mutant proteins. Marked similarities in the underlying genetics and the neurological symptoms suggest common pathogenic mechanisms. Exciting new efforts to unravel these mechanisms have recently been made in the area of proteostasis research, which is of high relevance to understanding proteopathies like CAG repeat diseases. To delineate the networks of cellular homeostasis in their entirety "-omics" approaches have moved into the focus and have unraveled surprising new connections between the molecules involved in disease. Seeding and spreading of misfolded protein species have recently been recognized as perhaps highly relevant to pathogenesis. Connected to these phenomena, innovative technologies to identify relevant targets, disease markers and effective therapeutics are in development. To increase the pace of molecular discovery and to accelerate translation into the clinic, a multidisciplinary effort is required.

The 2017 Gordon Research Conference on CAG Triplet Repeat Disorders and the associated Gordon Research Seminar (GRS) will gather young investigators and established senior scientists to deliver thought-provoking lectures on the cutting edge of science. In keeping with the Gordon Research Conference tradition, there will be ample time for structured discussions led by peers and for informal discussion and social interaction. Strong emphasis is placed on training and mentoring, and time will be devoted to career issues. All participants are required to submit posters, based on which invitations for short talks will be issued. Priority will be given to women, minorities and persons with disabilities when selecting speakers.

Related Meeting

This GRC was held in conjunction with the "CAG Triplet Repeat Disorders" Gordon Research Seminar (GRS). Refer to the associated GRS program page for more information.

Contributors

Meeting Program

Sunday
2:00 pm - 9:00 pmArrival and Check-in
6:00 pmDinner
7:30 pm - 7:40 pmWelcome / Introductory Comments by GRC Site Staff
7:40 pm - 9:30 pmKeynote Session: Disease Mechanisms and Phenotypes
Discussion Leader: Leslie Thompson (University of California, Irvine, USA)
7:40 pm - 8:20 pmHenry Paulson (University of Michigan Health System, USA)
"CAG Repeat Diseases: Genotype-Phenotype Correlations"
8:20 pm - 8:30 pmDiscussion
8:30 pm - 9:10 pmJudith Frydman (Stanford University, USA)
"Protein Quality Control and Protein Misfolding in Disease"
9:10 pm - 9:20 pmDiscussion
9:20 pm - 9:30 pmGeneral Discussion
Monday
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmCommon Pathogenic Mechanisms in Neurodegenerative Diseases
Discussion Leaders: Diane Merry (Thomas Jefferson University, USA) and Harry Orr (University of Minnesota, USA)
9:00 am - 9:25 amJeffrey Rothstein (Johns Hopkins University, USA)
"Dysfunction of Nuclear Pore Complex in Huntington's Disease and ALS"
9:25 am - 9:35 amDiscussion
9:35 am - 10:00 amRobert Richards (University of Adelaide, Australia)
"Autoinflammatory Disease as a Common Mechanism for Late-Onset Neurodegeneration"
10:00 am - 10:10 amDiscussion
10:10 am - 10:40 amCoffee Break
10:40 am - 10:55 amSelected from Poster Abstracts: Christopher Pearson (The Hospital for Sick Children, Canada)
"Parent-of-Origin Effect for Congenital Myotonic Dystrophy"
10:55 am - 11:05 amDiscussion
11:05 am - 11:20 amSelected from Poster Abstracts: Anna Pluciennik (Thomas Jefferson University, USA)
"Role of USP7 in the Pathogenicity of Spinal and Bulbar Muscular Atrophy"
11:20 am - 11:30 amDiscussion
11:30 am - 11:45 amSelected from Poster Abstracts: Joern Huelsmeier (Trinity College Dublin, Ireland)
"Endogenous Ataxin2 CAG Repeats and Intrinsically Disordered Domains Are Necessary for RNA-Granule Formation and Olfactory Long-Term Memory"
11:45 am - 11:55 amDiscussion
11:55 am - 12:10 pmSelected from Poster Abstracts: Edward Wild (Institute of Neurology, University College London, United Kingdom)
"Neurofilament Light Protein in Blood as a Biomarker for Neurodegeneration in Huntington's Disease"
12:10 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmThe Toxic Conformer: Does It Exist?
Discussion Leaders: Laura Ranum (University of Florida College of Medicine, USA) and Christopher Ross (Johns Hopkins University, USA)
7:30 pm - 7:55 pmRonald Melki (CNRS, France)
"Propagation of α-Synuclein and HTT Aggregates"
7:55 pm - 8:00 pmDiscussion
8:00 pm - 8:20 pmMeewhi Kim (University of Texas Southwestern Medical Center, USA)
"Conformations of N-Terminal HTT Fragments: Structural Investigations"
8:20 pm - 8:25 pmDiscussion
8:25 pm - 8:50 pmMatthew Disney (The Scripps Research Institute, USA)
"RNA Structures as Mediators of Disease"
8:50 pm - 8:55 pmDiscussion
8:55 pm - 9:15 pmLouise Serpell (University of Sussex, United Kingdom)
"Amyloid Structures and Mechanisms of Toxicity"
9:15 pm - 9:20 pmDiscussion
9:20 pm - 9:30 pmGeneral Discussion
Tuesday
7:30 am - 8:30 amBreakfast
8:30 amGroup Photo
9:00 am - 12:30 pmImpairment of DNA Repair and RNA Mechanisms in CAG Repeat Diseases
Discussion Leaders: Kimberly Kegel-Gleason (Massachusetts General Hospital, USA) and Matthew Disney (The Scripps Research Institute, USA)
9:00 am - 9:20 amLesley Jones (MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, United Kingdom)
"DNA Repair in the Trinucleotide Repeat Disorders"
9:20 am - 9:30 amDiscussion
9:30 am - 9:50 amHitoshi Okazawa (Tokyo Medical and Dental University, Japan)
"Impaired DNA Damage Repair in SCA1 and Other CAG Repeat Diseases"
9:50 am - 10:00 amDiscussion
10:00 am - 10:15 amSelected from Poster Abstracts: Jacob Loupe (Massachusetts General Hospital, USA)
"Functional Prioritization of Huntington's Disease Onset Modifiers in the Mouse"
10:15 am - 10:20 amDiscussion
10:20 am - 10:50 amCoffee Break
10:50 am - 11:10 amPartha Sarkar (University of Texas Medical Branch, USA)
"DNA Damage-Response Pathways in SCA3 and Huntington's Disease"
11:10 am - 11:20 amDiscussion
11:20 am - 11:35 amSelected from Poster Abstracts: Vincent Dion (University of Lausanne, Switzerland)
"Contracting CAG/CTG Repeat Using the CRISPR-Cas9 Nickase"
11:35 am - 11:40 amDiscussion
11:40 am - 11:55 amSelected from Poster Abstracts: Shyam Ramachandran (Children's Hospital of Philadelphia, USA)
"Mutant Huntingtin Disrupts CELF1-MBNL1 Regulation in Patient Brain and Model Systems"
11:55 am - 12:00 pmDiscussion
12:00 pm - 12:15 pmSelected from Poster Abstracts: Carlo Rinaldi (University of Oxford, United Kingdom)
"More than One Protein: Role of Androgen Receptor Isoforms in SBMA Pathogenesis"
12:15 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmWhat Can We Learn from Large OMIC Data Sets for Disease Research?
Discussion Leaders: Gillian Bates (University College London, United Kingdom) and James Rosinski (CHDI Foundation, USA)
7:30 pm - 7:50 pmWilliam Yang (David Geffen School of Medicine at UCLA, USA)
"Analysis of RNAseq and Proteomics Data in Models of HD"
7:50 pm - 7:55 pmDiscussion
7:55 pm - 8:15 pmSmita Saxena (University of Bern, Switzerland)
"The Synaptic Protein Homer-3 Influences SCA1 Pathophysiology"
8:15 pm - 8:20 pmDiscussion
8:20 pm - 8:40 pmJuan Botas (Baylor College of Medicine, USA)
"Functional Dissection of HD Networks in Drosophila: From Association to Causal Modulators of Neurodegeneration"
8:40 pm - 8:45 pmDiscussion
8:45 pm - 9:00 pmSelected from Poster Abstracts: Christian Neri (Pierre-and-Marie-Curie University, France)
"Weighted Network Models of the Temporal Dynamics and Biological Outcome of Huntington's Disease"
9:00 pm - 9:05 pmDiscussion
9:05 pm - 9:20 pmSelected from Poster Abstracts: Andrea Reyes-Ortiz (University of California, Irvine, USA)
"Transcriptomic and Functional Analysis of HD iPSC-Derived Brain Microvascular Endothelial Cells Reveals Angiogenic and BBB Deficits"
9:20 pm - 9:25 pmDiscussion
9:25 pm - 9:30 pmGeneral Discussion
Wednesday
7:30 am - 8:30 amBreakfast
9:00 am - 12:30 pmProteostasis and Protein Quality Control Mechanisms in Disease
Discussion Leaders: Eric Reits (University of Amsterdam, The Netherlands) and Joan Steffan (University of California, Irvine, USA)
9:00 am - 9:25 amNico Dantuma (Karolinska Institutet, Sweden)
"Polyglutamine Proteins and the Ubiquitin/Proteasome System"
9:25 am - 9:35 amDiscussion
9:35 am - 10:00 amJanine Kirstein (Leibniz Institute for Molecular Pharmacology, Germany)
"Complete Suppression of HTT Fibrilization and Disaggregation of HTT Fibrils by a Trimeric Chaperone Complex"
10:00 am - 10:10 amDiscussion
10:10 am - 10:25 amSelected from Poster Abstracts: Mark Hipp (Max Planck Institute of Biochemistry, Germany)
"Architecture of PolyQ Inclusions"
10:25 am - 10:30 amDiscussion
10:30 am - 11:00 amCoffee Break
11:00 am - 11:25 amHarm Kampinga (University Medical Center Groningen, The Netherlands)
"HSPs as Potential Therapy Targets in Neurodegeneration"
11:25 am - 11:30 amDiscussion
11:30 am - 11:55 amAi Yamamoto (Columbia University, USA)
"Clearance of PolyQ Proteins in Mammalian Cells"
11:55 am - 12:00 pmDiscussion
12:00 pm - 12:15 pmSelected from Poster Abstracts: Rocio Gomez Pastor (Duke University School of Medicine, USA)
"Heat Shock Transcription Factor 1: A Neuroprotective Role in Huntington's Disease"
12:15 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmFrom Molecules to Humans: Selected Poster Presentations / Selected GRS Presentations
Discussion Leaders: Åsa Petersén (Lund University, Sweden) and Sarah Tabrizi (University College London, United Kingdom)
7:30 pm - 7:50 pmBeverly Davidson (The Children's Hospital of Philadelphia, USA)
"Development of Innovative Therapeutic Strategies for CAG Repeat Diseases"
7:50 pm - 8:00 pmDiscussion
8:00 pm - 8:15 pmSelected from Poster Abstracts: Nicolas Arbez (Johns Hopkins School of Medicine, USA)
"Modulation of Huntingtin Toxicity by Post-Translational Modifications"
8:15 pm - 8:20 pmDiscussion
8:20 pm - 8:35 pmSelected from Poster Abstracts: Anastasia Gromova (University of California, San Diego, USA)
"Elucidating Mechanisms of Skeletal Muscle-Driven Neurodegeneration in Spinal and Bulbar Muscular Atrophy"
8:35 pm - 8:40 pmDiscussion
8:40 pm - 8:55 pmSelected from Poster Abstracts: Anne Steinhof (Max Delbrueck Center for Molecular Medicine in the Helmholtz Association, Germany)
"Mutant HTT Seeding Activity: A Marker of Disease Progression in Models of Huntington's Disease"
8:55 pm - 9:00 pmDiscussion
9:00 pm - 9:15 pmTalk Selected from the GRS
9:15 pm - 9:20 pmDiscussion
9:20 pm - 9:30 pmGeneral Discussion
Thursday
7:30 am - 8:30 amBreakfast
8:30 am - 9:00 amBusiness Meeting
Nominations for the Next Vice Chair; Fill in Conference Evaluation Forms; Discuss Future Site and Scheduling Preferences; Election of the Next Vice Chair
9:00 am - 12:30 pmInnovative Technologies, Model Systems and Quantitative Methods
Discussion Leaders: Blair Leavitt (University of British Columbia, Canada) and Erich Wanker (Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Germany)
9:00 am - 9:25 amAndreas Weiss (Evotec AG, Germany)
"Quantitative CNS Disease Protein Assays for Screening and Biomarker Applications"
9:25 am - 9:35 amDiscussion
9:35 am - 10:00 amElena Cattaneo (University of Milan, Italy)
"Organoid Models for CAG Repeat Diseases"
10:00 am - 10:10 amDiscussion
10:10 am - 10:25 amSelected from Poster Abstracts: Xiao-Jiang Li (Emory University, USA)
"CRIPSR/Cas9-Mediated Therapeutic Effect in HD Knock-In Mice"
10:25 am - 10:30 amDiscussion
10:30 am - 11:00 amCoffee Break
11:00 am - 11:25 amFanny Mochel (Pierre and Marie Curie University, France)
"Metabolic Imaging and Metabolomics in Polyglutamine Diseases"
11:25 am - 11:30 amDiscussion
11:30 am - 11:55 amBeatriz Alvarez-Castelao (Max Planck Institute for Brain Research, Germany)
"Identification of Newly Synthesized Proteomes in the Brain"
11:55 am - 12:00 pmDiscussion
12:00 pm - 12:15 pmSelected from Poster Abstracts: Danielle Simmons (Stanford University, USA)
"TSPO-PET Imaging Using 18F-PBR06 Is a Potential Biomarker for Monitoring Therapeutic Efficacy in Huntington's Disease: Preclinical Evidence with the Small Molecule p75NTR Ligand LM11A-31"
12:15 pm - 12:20 pmDiscussion
12:20 pm - 12:30 pmGeneral Discussion
12:30 pmLunch
1:30 pm - 4:00 pmFree Time
4:00 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmInnovative Therapeutic Strategies and Diagnostic Tools
Discussion Leaders: Edward Wild (Institute of Neurology, University College London, United Kingdom) and Henry Paulson (University of Michigan Health System, USA)
7:30 pm - 7:50 pmSarah Tabrizi (University College London, United Kingdom)
"Meeting the Therapeutic Challenge of HD"
7:50 pm - 7:55 pmDiscussion
7:55 pm - 8:15 pmAlbert La Spada (University of California, San Diego, USA)
"Novel Therapeutic Strategies for PolyQ Diseases"
8:15 pm - 8:20 pmDiscussion
8:20 pm - 8:40 pmGulin Oz (University of Minnesota, USA)
"Treatment Monitoring by Magnetic Resonance Spectroscopy in Neurodegenerative Diseases"
8:40 pm - 8:45 pmDiscussion
8:45 pm - 9:00 pmSelected from Poster Abstracts: Hayley McLoughlin (University of Michigan, USA)
"Toward Antisense Oligonucleotide Therapy for Spinocerebellar Ataxia Type 3"
9:00 pm - 9:05 pmDiscussion
9:05 pm - 9:20 pmSelected from Poster Abstracts: Matt Scaglione (Medical College of Wisconsin, USA)
"CHIPping Away at Polyglutamine"
9:20 pm - 9:25 pmDiscussion
9:25 pm - 9:30 pmGeneral Discussion
Friday
7:30 am - 8:30 amBreakfast
9:00 amDeparture

Funding for this conference was made possible (in part) by 1R13NS103418-01 from the National Institutes of Health. The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention of trade names, commercial practices, or organizations imply endorsement by the U.S. Government.
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