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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 Site Information

Organizers

Chair:
Erich E. Wanker

Vice Chair:
Christopher A. Ross

Application Deadline

Applications for this meeting must be submitted by May 7, 2017. Please apply early, as some meetings become oversubscribed (full) before this deadline. If the meeting is oversubscribed, it will be stated here. Note: Applications for oversubscribed meetings will only be considered by the Conference Chair if more seats become available due to cancellations.

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 will be held in conjunction with the "CAG Triplet Repeat Disorders" Gordon Research Seminar (GRS). Those interested in attending both meetings must submit an application for the GRS in addition to an application for the GRC. 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 - 8:35 pmDiscussion
8:35 pm - 9:15 pmJudith Frydman (Stanford University, USA)
"Protein Quality Control and Protein Misfolding in Disease"
9:15 pm - 9:30 pmDiscussion
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 - 9:20 amJeffrey Rothstein (Johns Hopkins University, USA)
"Dysfunction of Nuclear Pore Complex in Huntington's Disease and ALS"
9:20 am - 9:30 amDiscussion
9:30 am - 9:50 amRobert Richards (University of Adelaide, Australia)
"Autoinflammatory Disease as a Common Mechanism for Late-Onset Neurodegeneration"
9:50 am - 10:00 amDiscussion
10:00 am - 10:30 amCoffee Break
10:30 am - 10:45 amShort Talk Selected from Poster Abstracts
10:45 am - 10:50 amDiscussion
10:50 am - 11:10 amShort Talk Selected from Poster Abstracts
11:10 am - 11:15 amDiscussion
11:15 am - 11:35 amShort Talk Selected from Poster Abstracts
11:35 am - 11:40 amDiscussion
11:40 am - 12:00 pmShort Talk Selected from Poster Abstracts
12:00 pm - 12:10 pmDiscussion
12:10 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 - 7:50 pmRonald Melki (Paris-Saclay Institute of Neuroscience, France)
"Propagation of α-Synuclein and HTT Aggregates"
7:50 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 - 8:30 pmDiscussion
8:30 pm - 8:50 pmMatthew Disney (The Scripps Research Institute, USA)
"RNA Structures as Mediators of Disease"
8:50 pm - 9:00 pmDiscussion
9:00 pm - 9:20 pmLouise Serpell (University of Sussex, United Kingdom)
"Amyloid Structures and Mechanisms of Toxicity"
9:20 pm - 9:30 pmDiscussion
Tuesday
7:30 am - 8:30 amBreakfast
8:30 amGroup Photo
9:00 am - 12:30 pmImpairment of DNA Repair Mechanisms in CAG Repeat Diseases
Discussion Leaders: Kimberly Kegel-Gleason (Massachusetts General Hospital, USA) and Jang-Ho Cha (Novartis Institutes for BioMedical Research, 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 amShort Talk Selected from Poster Abstracts
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 amShort Talk Selected from Poster Abstracts
11:35 am - 11:40 amDiscussion
11:40 am - 11:55 amShort Talk Selected from Poster Abstracts
11:55 am - 12:00 pmDiscussion
12:00 pm - 12:15 pmShort Talk Selected from Poster Abstracts
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: Daniel Lavery (CHDI Foundation, USA) and Gillian Bates (King's College London, United Kingdom)
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 pmShort Talk Selected from Poster Abstracts
9:00 pm - 9:05 pmDiscussion
9:05 pm - 9:20 pmShort Talk Selected from Poster Abstracts
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 - 10:20 amShort Talk Selected from Poster Abstracts
10:20 am - 10:25 amDiscussion
10:25 am - 10:55 amCoffee Break
10:55 am - 11:20 amHarm Kampinga (University Medical Center Groningen, The Netherlands)
"HSPs as Potential Therapy Targets in Neurodegeneration"
11:20 am - 11:30 amDiscussion
11:30 am - 11:55 amAi Yamamoto (Columbia University, USA)
"Clearance of PolyQ Proteins in Mammalian Cells"
11:55 am - 12:05 pmDiscussion
12:05 pm - 12:15 pmShort Talk Selected from Poster Abstracts
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: Asa Petersen (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 pmShort Talk Selected from Poster Abstracts
8:15 pm - 8:20 pmDiscussion
8:20 pm - 8:35 pmShort Talk Selected from Poster Abstracts
8:35 pm - 8:40 pmDiscussion
8:40 pm - 8:55 pmShort Talk Selected from Poster Abstracts
8:55 pm - 9:00 pmDiscussion
9:00 pm - 9:15 pmShort Talk Selected from Poster Abstracts
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: Jenny Morton (University of Cambridge, United Kingdom) and Blair Leavitt (University of British Columbia, Canada)
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 - 10:20 amShort Talk Selected from Poster Abstracts
10:20 am - 10:25 amDiscussion
10:25 am - 10:55 amCoffee Break
10:55 am - 11:20 amFanny Mochel (Pierre and Marie Curie University, France)
"Metabolic Imaging and Metabolomics in Polyglutamine Diseases"
11:20 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 - 12:05 pmDiscussion
12:05 pm - 12:15 pmShort Talk Selected from Poster Abstracts
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 - 8:00 pmDiscussion
8:00 pm - 8:20 pmAlbert La Spada (University of California, San Diego, USA)
"Novel Therapeutic Strategies for PolyQ Diseases"
8:20 pm - 8:30 pmDiscussion
8:30 pm - 8:50 pmGulin Oz (University of Minnesota, USA)
"Treatment Monitoring by Magnetic Resonance Spectroscopy in Neurodegenerative Diseases"
8:50 pm - 9:00 pmDiscussion
9:00 pm - 9:15 pmShort Talk Selected from Poster Abstracts
9:15 pm - 9:20 pmDiscussion
9:20 pm - 9:30 pmGeneral Discussion
Friday
7:30 am - 8:30 amBreakfast
9:00 amDeparture
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