Sunday
4:00 pm - 8:00 pm
Arrival and Check-in
6:00 pm - 7:00 pm
Dinner
7:30 pm - 7:40 pm
Introductory Comments by GRC Site Staff / Welcome from the GRC Chair
7:40 pm - 9:30 pm
Keynote Session: Clinical Phenotypes, Underlying Mechanisms and Therapeutic Applications
7:40 pm - 7:50 pm
Opening Remarks
7:50 pm - 7:55 pm
Introduction by Discussion Leader
7:55 pm - 8:30 pm
"CAG Triplet Repeat Diseases: Molecular Pathogenesis to Rational Therapeutics"
8:30 pm - 8:45 pm
Discussion
8:45 pm - 9:10 pm
"Ataxin-1 Biology and SCA1 Pathogenesis: Insights into PolyQ Neurodegenerative Diseases"
9:10 pm - 9:20 pm
Discussion
9:20 pm - 9:30 pm
General Discussion
Monday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Genetics and Modifier Genes Implicate DNA Repair and Somatic Expansion
9:00 am - 9:05 am
Introduction by Discussion Leader
9:05 am - 9:25 am
"Modifiers of Huntington's Disease CAG Repeat Instability"
9:25 am - 9:35 am
Discussion
9:35 am - 9:55 am
"Breaking Bad: Repeat Expansion in a Fragile X Mouse Model"
9:55 am - 10:05 am
Discussion
10:05 am - 10:15 am
"Loss of CAG Repeat Interruptions Modifies the Clinical Onset of Huntington Disease"
10:15 am - 10:20 am
Discussion
10:20 am - 10:45 am
Coffee Break
10:45 am - 10:55 am
"Whole Exome Sequencing and Regression Analyses Identify Damaging DNA Repair Variants Associated with Altered Age at Onset in Huntington's Disease"
10:55 am - 11:00 am
Discussion
11:00 am - 11:10 am
"Somatic CAG Repeat Polyorphism in Human HD Postmortem Brains"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"Modifying the CAP Score to Account for Staging and Somatic Expansion in Huntington's Disease"
11:25 am - 11:30 am
Discussion
11:30 am - 11:40 am
"Effect of FAN1 Knock-out on CAG Repeat Expansions and Associated Phenotypes in iPSC Models of Huntington's Disease"
11:40 am - 11:45 am
Discussion
11:45 am - 11:55 am
"Slipped-CAG DNA Binding Small Molecule Induces Trinucleotide Repeat Contractions In Vivo "
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
"Huntingtin Lowering Reduces Somatic Instability at the Huntingtin Locus in Peripheral and Central Tissues"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Molecular Pathogenesis: RNA Mechanisms and RAN Translation
6:00 pm - 6:10 pm
Introduction by Discussion Leader
6:10 pm - 6:30 pm
"RAN Translation: Molecular Mechanisms and Therapeutic Opportunities"
6:30 pm - 6:40 pm
Discussion
6:40 pm - 7:00 pm
"Repeat Expansion Causing Glutaminase Deficiency"
7:00 pm - 7:10 pm
Discussion
7:10 pm - 7:20 pm
"Regulatory Mechanisms of Incomplete Huntingtin mRNA Splicing"
7:20 pm - 7:25 pm
Discussion
7:25 pm - 7:35 pm
"Systemic Exosomal siRNA-Mediated Inhibition of Huntingtin Expression in Transgenic Mice of Huntington's Disease"
7:35 pm - 7:40 pm
Discussion
7:40 pm - 8:00 pm
General Discussion
8:00 pm - 9:00 pm
Dinner
Tuesday
7:30 am - 8:30 am
Breakfast
8:30 am - 9:00 am
Group Photo
9:00 am - 12:30 pm
Molecular Pathogenesis: Polyglutamine Proteins
9:00 am - 9:05 am
Introduction by Discussion Leader
9:05 am - 9:25 am
9:25 am - 9:35 am
Discussion
9:35 am - 9:55 am
"Htt PTMs as a Window to Understanding Htt Function in Health and Disease: From Molecular Mechanisms to Potential Therapeutic Strategies"
9:55 am - 10:05 am
Discussion
10:05 am - 10:15 am
"Phosphorylation Modulates Polyglutamine Androgen Receptor Structure and Function Modifying Spinal and Bulbar Muscular Atrophy Pathogenesis"
10:15 am - 10:20 am
Discussion
10:20 am - 10:45 am
Coffee Break
10:45 am - 10:55 am
"Mutant Atrophin-1 Induced Neurodegeneration via Nuclear Export Signal in a Mouse Model of DRPLA"
10:55 am - 11:00 am
Discussion
11:00 am - 11:10 am
"Design and Characterization of Mutant and Wild-Type Huntingtin Proteins Produced from a Toolkit of Scalable Eukaryotic Expression Systems"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"Beta-Turn-Mediated Beta-Hairpin Containing Amyloid-Cores of Polyglutamine Aggregates"
11:25 am - 11:30 am
Discussion
11:30 am - 11:50 am
"Huntingtin Exon 1 Aggregation in Cells"
11:50 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
"Evidence for Prion-Like Conformational Transmission of a Polyglutamine Protein Monomer"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Cellular Mechanisms: Cell Autonomous Pathways
6:00 pm - 6:05 pm
Introduction by Discussion Leader
6:05 pm - 6:25 pm
"Molecular Pathogenic Mechanisms in SBMA: Identifying the Mutant Androgen Receptor Interactome"
6:25 pm - 6:35 pm
Discussion
6:35 pm - 6:55 pm
"Common Nodes and Pathways of DNA Damage Repair for Ataxia Telangiectasia, Spinocerebellar Ataxia 1 and Huntington's Disease"
6:55 pm - 7:05 pm
Discussion
7:05 pm - 7:15 pm
"Intervening in the Transcriptional Coordination of Autophagy and Inflammation in Multiple Neurodegenerative Diseases"
7:15 pm - 7:20 pm
Discussion
7:20 pm - 7:30 pm
"Identification and Validation of the Huntingtin-Kinase Interactome"
7:30 pm - 7:35 pm
Discussion
7:35 pm - 7:45 pm
"Dysregulation of Poly ADP Ribose Signaling in Huntington's Disease and Its Potential as a Therapeutic Target"
7:45 pm - 7:50 pm
Discussion
7:50 pm - 8:00 pm
General Discussion
8:00 pm - 9:00 pm
Dinner
Wednesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Cellular Mechanisms: Cell-Cell Interactions and Spread Within the Brain
9:00 am - 9:05 am
Introduction by Discussion Leader
9:05 am - 9:25 am
"The Propagation and Seeding Capacities of Mutant Huntingtin: Relevance for Novel Therapeutics"
9:25 am - 9:35 am
Discussion
9:35 am - 9:45 am
"Formation of Small Amounts of Seeding-Competent Mutant Huntingtin Aggregates in Neurons Drive Pathogenesis in Huntington's Disease Transgenic Flies"
9:45 am - 9:50 am
Discussion
9:50 am - 10:00 am
"Tunneling Nanotubes and Cell-to-Cell Transportation of the mHTT Protein"
10:00 am - 10:05 am
Discussion
10:05 am - 10:15 am
"Cell-Cell Interactions and Htt Transmission"
10:15 am - 10:20 am
Discussion
10:20 am - 10:45 am
Coffee Break
10:45 am - 11:05 am
"Fast Axonal Transport, Energy Supply and Neurotrophin Signaling and Neurodegeneration"
11:05 am - 11:15 am
Discussion
11:15 am - 11:25 am
"HD Phenotypes in a Human In Vitro Model of the Corticostriatal Pathway"
11:25 am - 11:30 am
Discussion
11:30 am - 11:40 am
"Longitudinal MRI Imaging Datasets to Define HD Brain Changes and Suggest Potential Spread of Pathology"
11:40 am - 11:45 am
Discussion
11:45 am - 11:55 am
"Cortical Circuit Impairments in Huntington's Disease Mice Revealed with Chronic In Vivo Calcium Imaging"
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
"Transgenic Minipigs for N-Terminal Part of Human Mutated Huntingtin: From Phenotyping to Gene Therapy Studies"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
In Vivo Pathogenesis: Neurons and Glia
6:00 pm - 6:05 pm
Introduction by Discussion Leader
6:05 pm - 6:25 pm
"Beyond the Neuron: Huntington's Disease Pathogenesis"
6:25 pm - 6:35 pm
Discussion
6:35 pm - 6:55 pm
"Interrupting Repeats in SCA10 Expansion and hnRNP K"
6:55 pm - 7:05 pm
Discussion
7:05 pm - 7:25 pm
"Staufen-1 in Neurodegeneration"
7:25 pm - 7:35 pm
Discussion
7:35 pm - 7:45 pm
"Intrinsic Mutant HTT-Mediated Defects in Oligodendroglia Cause Myelination Deficits and Behavioural Abnormalities in Huntington Disease"
7:45 pm - 7:50 pm
Discussion
7:50 pm - 8:00 pm
General Discussion
8:00 pm - 9:00 pm
Dinner
Thursday
7:30 am - 8:30 am
Breakfast
8:30 am - 9:00 am
Business 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 pm
Approaches to Human Therapeutics: Molecular Mechanisms Drive Rational Interventions
9:00 am - 9:05 am
Introduction by Discussion Leader
9:05 am - 9:25 am
"In Vivo Studies of Mutant and Wild-Type Huntingtin"
9:25 am - 9:35 am
Discussion
9:35 am - 9:55 am
"Decoding CSF Huntingtin"
9:55 am - 10:05 am
Discussion
10:05 am - 10:15 am
"Longitudinal Evaluation of Mutant Huntingtin and Neurofilament Light as Biomarkers for Huntington's Disease: The HD-CSF Study"
10:15 am - 10:20 am
Discussion
10:20 am - 10:45 am
Coffee Break
10:45 am - 10:55 am
"Novel fMRI Biomarkers for Early Detection of Brain Changes in HD"
10:55 am - 11:00 am
Discussion
11:00 am - 11:10 am
"S1R as Novel Therapeutic Target for HD"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"Update on Pridopidine in HD: Selective S1R Occupancy in Human PET and Exploratory Data from PRIDE-HD"
11:25 am - 11:30 am
Discussion
11:30 am - 11:45 am
"AAV RNAi Approach to SCA Therapeutics"
11:45 am - 11:50 am
Discussion
11:50 am - 12:10 pm
"VY-HTT01: A Potential Gene Therapy Treatment of Huntington's Disease"
12:10 pm - 12:20 pm
Discussion
12:20 pm - 12:30 pm
General Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Human Clinical Trials: Rationale, Outcome Measures and Trial Designs
6:00 pm - 6:05 pm
Introduction by Discussion Leader
6:05 pm - 6:25 pm
"Silencing CAG Repeats in Huntington Disease and SCA3"
6:25 pm - 6:35 pm
Discussion
6:35 pm - 6:55 pm
"Selective Targeting of Mutant Huntingtin Using Stereopure Oligonucleotides as a Potential Therapeutic Approach for Huntington's Disease"
6:55 pm - 7:05 pm
Discussion
7:05 pm - 7:30 pm
"RG6042, an Antisense Oligonucleotide for the Treatment of Huntington's Disease"
7:30 pm - 7:40 pm
Discussion
7:40 pm - 7:55 pm
General Discussion
7:55 pm - 8:00 pm
Closing Remarks
8:00 pm - 9:00 pm
Dinner
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure