Sunday
2:00 pm - 9:00 pm
Arrival and Check-in
6:00 pm - 7:00 pm
Dinner
7:30 pm - 7:40 pm
Introductory Comments by GRC Staff / Welcome and Introduction from the Chairs
7:40 pm - 9:30 pm
Keynote Session: Triplet Repeats, Neurogenetic Disorders and Mutations During Development and Aging
7:40 pm - 8:25 pm
"Clinical Variability in CAG Repeat Expansion Disorder"
8:25 pm - 8:35 pm
Discussion
8:35 pm - 9:20 pm
"Somatic Mutation in Human Brain in Neurodegenerative Diseases"
9:20 pm - 9:30 pm
Discussion
Monday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Somatic Instability, Mismatch Repair, Expansion and Contraction in CAG Triplet Disorders
9:00 am - 9:20 am
"Interaction Between H3K56 and MutSβ Drives CAG Repeat Expansion"
9:20 am - 9:30 am
Discussion
9:30 am - 9:50 am
"The Mismatch Repair System and its Deficiency: What are the Consequences?"
9:50 am - 10:00 am
Discussion
10:00 am - 10:30 am
Coffee Break
10:30 am - 10:40 am
"Somatic Expansion and Loss of Interruption Variants in Huntington Disease: Insights from Peripheral Blood and Postmortem Brain Tissues"
10:40 am - 10:45 am
Discussion
10:45 am - 10:55 am
"Loss-of-Interruption Variants Associated with Early Huntington Disease Onset Increase mHTT Toxicity Without Affecting Repeat Instability"
10:55 am - 11:00 am
Discussion
11:00 am - 11:10 am
"Increasing CAG Repeat Length in the Huntingtin Gene is Associated with Smaller Subcortical Brain Volumes in Individuals that have Normal and Intermediate Alleles"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"Large Somatic CAG Repeat Expansions (>150 CAG) are Frequent in Neurons of Late-Stage HD Brains, but not Observed in Early-Stage HD Brains or Peripheral Tissues"
11:25 am - 11:30 am
Discussion
11:30 am - 11:40 am
"Polyglutamine Repeat Diseases: Universal and Divergent Patterns of Germline Instability"
11:40 am - 11:45 am
Discussion
11:45 am - 11:55 am
"Msh3-Dependent Nuclear Mutant Huntingtin Accumulation Impairs Chromatin Organization in HD Vulnerable Neurons"
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
"Somatic CAG Repeat Instability in Spinal and Bulbar Muscular Atrophy"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
"Tackling the Cause of Fragile X Syndrome by R-loop Mediated Epigenetic Mechanisms on Repeats"
12:25 pm - 12:30 pm
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
Neurogenetic and Expansion-Related Disorders
6:00 pm - 6:20 pm
"A Diverse Population-Scale Short Tandem Repeat Expansion Dataset Elucidates Disease Epidemiology, Discovery and Biomarkers"
6:20 pm - 6:30 pm
Discussion
6:30 pm - 6:50 pm
"Harnessing Millions of Tandem Repeats to Elucidate the Genetic of Human Health and Disease"
6:50 pm - 7:00 pm
Discussion
7:00 pm - 7:20 pm
"Strategies for Novel Tandem Repeat Expansion Identification: Learnings from Large Control and Patient Cohort Studies"
7:20 pm - 7:30 pm
Discussion
7:30 pm - 7:40 pm
"Molecular Kidnapping: AUUUC Repeat RNA Sequesters RBPs and Iron in Spinocerebellar Ataxia Type 37"
7:40 pm - 7:45 pm
Discussion
7:45 pm - 7:55 pm
"Unbiased Human Genomic Characterization of Polyglutamine Disorder Genes to Inform Therapeutic Strategies"
7:55 pm - 8:00 pm
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
Metabolism and Dyshomeostasis in CAG Triplet Disorders
9:00 am - 9:20 am
"Disrupted TDP-43 Activity and Altered m6A RNA Modification Contribute to Splicing Changes in HD"
9:20 am - 9:30 am
Discussion
9:30 am - 9:50 am
"circRNAs in Huntington's Disease: Neglected RNA Molecules in Genetic Brain Disorders"
9:50 am - 10:00 am
Discussion
10:00 am - 10:20 am
"Proteostasis of Pathogenic Huntington: The Impact of an Expanded polyQ Tract"
10:20 am - 10:30 am
Discussion
10:30 am - 11:00 am
Coffee Break
11:00 am - 11:10 am
"PRMT5 Promotes Full-Length HTT Expression by Repressing Multiple Proximal Intronic Polyadenylation Sites"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"Intranasal Delivery of a CAG Repeat RNA-Targeting Peptide Ameliorates Neurodegeneration in Huntington’s Disease Mice"
11:25 am - 11:30 am
Discussion
11:30 am - 11:40 am
"Androgens and Neuronal Activity Synergistically Act on Androgen Receptor to Modulate the Immediate Transcriptional Response to Stimulation"
11:40 am - 11:45 am
Discussion
11:45 am - 11:55 am
"ATXN2 mRNA Shuttling to Exosomes: A Mechanism Underlying Pathogenesis?"
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
"Linking Energy Metabolism to Epigenetic Dysregulation in HD"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
"TDP-43 Overexpression in the Hypothalamus Causes Neuropathology, Metabolic Dysregulation and Apathy in Mice"
12:25 pm - 12:30 pm
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
Neurodevelopmental Component of PolyQ Disorders
6:00 pm - 6:20 pm
"Provisional: Exploring Brain Development and Instability in Huntington’s Disease"
6:20 pm - 6:30 pm
Discussion
6:30 pm - 6:50 pm
"The Development of Abnormal Neural Circuits in Spinocerebellar Ataxia Type 1"
6:50 pm - 7:00 pm
Discussion
7:00 pm - 7:10 pm
"Deletion of Murine F8a/HAP40 but not HTT in Cortical Lineage Leads to Juvenile-Onset Neurodegeneration"
7:10 pm - 7:15 pm
Discussion
7:15 pm - 7:25 pm
"Identification of Neurodevelopmental Organization of the Cell Populations of Juvenile Huntington's Disease Using Dorso-Ventral HD Organoids and HD Mouse Embryos"
7:25 pm - 7:30 pm
Discussion
7:30 pm - 7:40 pm
"Characterizing Huntingtin Variants in a Neurodevelopmental Disorder"
7:40 pm - 7:45 pm
Discussion
7:45 pm - 7:55 pm
"Modeling Early Cellular and Molecular Features of Huntington’s Disease in Human Stem Cell-Derived Cortical Organoids"
7:55 pm - 8:00 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Wednesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Cellular and Circuit Alterations in PolyQ Disorders
9:00 am - 9:20 am
"Selective Modulation of Mutant Ataxin-1 is Neuroprotective in SCA1"
9:20 am - 9:30 am
Discussion
9:30 am - 9:50 am
"Single-Cell Dissection of the Human Striatum and Cerebellum Reveals Intrinsic Vulnerabilities of GABAergic Projection Neurons in CAG Triplet Repeat Disorders"
9:50 am - 10:00 am
Discussion
10:00 am - 10:30 am
Coffee Break
10:30 am - 10:50 am
"Moving Beyond the Striatum: How Cortical Circuits Modulate Motor and Sensory Symptoms in Huntington's Disease"
10:50 am - 11:00 am
Discussion
11:00 am - 11:10 am
"Genetic Ablation of GABAergic Inhibitory Transmission onto Purkinje Cell Neurons Ameliorates Disease Phenotypes in Spinocerebellar Ataxia Type 7 Model Mice"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"Early Cortical Hyperexcitability and Altered Sensorimotor Processing in a Mouse Model of Huntington Disease"
11:25 am - 11:30 am
Discussion
11:30 am - 11:40 am
"Unraveling Local Translation On TrkB Signaling Endosomes in Health and Huntington Disease"
11:40 am - 11:45 am
Discussion
11:45 am - 11:55 am
"Striatal Pathology Contributes to Motor Deficits in Spinocerebellar Ataxia Type 1 Mice"
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
"Neuronal Remodeling as a Resilience Mechanism in PolyQ Ataxia"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
"Premature Aging of Neural Stem Cells in Huntington Disease"
12:25 pm - 12:30 pm
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
CAG Triplet Repeat Disorders: Looking Beyond the PolyQ
6:00 pm - 6:20 pm
"A Disease-Associated Motor Neuron Signature Connects Inherited and Sporadic Forms of Motor Neuron Disease"
6:20 pm - 6:30 pm
Discussion
6:30 pm - 6:50 pm
"Combatting Proteinopathies: PolyQ and Beyond"
6:50 pm - 7:00 pm
Discussion
7:00 pm - 7:20 pm
"The Evolution of Androgen Receptor CAG Repeats and Phosphorylation Sites from Fish to Humans"
7:20 pm - 7:30 pm
Discussion
7:30 pm - 7:50 pm
"Huntington's Disease and Autophagy"
7:50 pm - 8:00 pm
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(s); Complete the GRC Evaluation Forms; Election of the Next Vice Chair(s)
9:00 am - 12:30 pm
Function(s) and Dysfunction(s) of Triplet Repeats Disorder Proteins
9:00 am - 9:20 am
"Decoding Huntington's Disease Biology with Chemical Tools"
9:20 am - 9:30 am
Discussion
9:30 am - 9:50 am
"Mechanisms Underlying Neurodegeneration in Directly Reprogrammed HD Patient-Derived Neurons"
9:50 am - 10:00 am
Discussion
10:00 am - 10:30 am
Coffee Break
10:30 am - 10:40 am
"Elucidating The Functional Relationship Between Ataxin1, Ataxin1-Like and Capicua In The Brain"
10:40 am - 10:45 am
Discussion
10:45 am - 10:55 am
"Lysine-Specific Demethylase 1 (LSD1) and Protein Arginine Methyltransferase 6 (PRMT6) in SBMA"
10:55 am - 11:00 am
Discussion
11:00 am - 11:10 am
"Modulation of Neurotoxicity in Huntington's Disease Fly Models with Small Molecules and Proteins"
11:10 am - 11:15 am
Discussion
11:15 am - 11:25 am
"ASOs that Selectively Lower mHtt and Htt1a are Superior to non-Selective Lowering of Htt in the Htt.Q111 Model of Huntington’s Disease"
11:25 am - 11:30 am
Discussion
11:30 am - 11:40 am
"HX127, A New Oral Drug Candidate Targeting Palmitoylation to Restore Axonal Transport and Reverse Neuropathology and Behavior in HD"
11:40 am - 11:45 am
Discussion
11:45 am - 11:55 am
"Impact of the Lopes-Maciel-Rodan Syndrome Missense Mutation in Hdh Q111 Knock-in Mice"
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
"The Short Androgen Receptor Isoform (AR-A) Protects Against Mutant Androgen Receptor Toxicity in SBMA"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
"PolyQ Length-Dependent ATXN2 Interaction with Ribosomal Proteins and RNA in Spinocerebellar Ataxia Type 2 Patient Cells"
12:25 pm - 12:30 pm
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
New Approaches to Unravel Pathogenic Mechanisms in PolyQ Disorders
6:00 pm - 6:20 pm
"Multi-Epitope Immunocapture of Huntingtin Reveals Striatum-Selective Molecular Signatures"
6:20 pm - 6:30 pm
Discussion
6:30 pm - 6:50 pm
"Finding Potential Modifiers of HD from Families using iPSCs and AI"
6:50 pm - 7:00 pm
Discussion
7:00 pm - 7:10 pm
"Pathway Discovery with Integration, Perturbation and Pooled Profiling Reveals Pathways of Huntington’s Disease"
7:10 pm - 7:15 pm
Discussion
7:15 pm - 7:25 pm
"Long-Term Amelioration of Huntington’s Disease-Like Deficits in BAC226Q Mice by Self-Inactivating-CRISPR System"
7:25 pm - 7:30 pm
Discussion
7:30 pm - 7:40 pm
"Biological Significance of Small Extracellular Vesicle Remodeling in Huntington’s Disease"
7:40 pm - 7:45 pm
Discussion
7:45 pm - 7:55 pm
"Unveiling Non-Neuronal Mechanisms in Spinocerebellar Ataxia Type 3: Transcriptomic Insights from the Spinal Cord"
7:55 pm - 8:00 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure