1:00 pm - 5:00 pm
Arrival and Check-in
3:30 pm - 3:45 pm
Introductory Comments by GRC Staff / Welcome and Introduction from the Chairs
3:45 pm - 4:30 pm
Keynote Session: Dr. Leslie Thompson
Jasmine Donaldson (UCL Queen Square Institute of Neurology, United Kingdom)
3:45 pm - 4:20 pm
Leslie Thompson (University of California, Irvine, United States) "Perspectives on Huntington's Disease Research and Pathogenic Mechanisms"
4:20 pm - 4:30 pm
4:30 pm - 6:00 pm
6:00 pm - 7:00 pm
7:30 pm - 9:30 pm
Molecular Mechanisms driving Neurodegeneration
Hannah Shorrock (University at Albany, United States)
7:30 pm - 7:45 pm
Alexandra Putka (University of Michigan, United States) "SCA3 Pathogenic Mechanisms are Altered in Primary Oligodendrocyte Cell Culture from YACQ84 Mice"
7:45 pm - 7:50 pm
7:50 pm - 8:05 pm
Ashley Robbins (Children's Hospital of Philadelphia, United States) "Investigating the Temporal Dynamics of Cell-Type and Region-Specific Neurodegeneration in CAG Repeat Disorders via Highly Multiplexed Single-Nuclei Transcriptomics"
8:05 pm - 8:10 pm
8:10 pm - 8:25 pm
Alfina Ambra Speciale (University of Oxford, United Kingdom) "Investigating RNA Editing Dysregulation in Polyglutamine Disorders"
8:25 pm - 8:30 pm
8:30 pm - 8:45 pm
Laura Chan (UBC, Canada) "A Novel
In Vitro Method to Evaluate Huntingtin's Protective Function"
8:45 pm - 8:50 pm
8:50 pm - 9:05 pm
Anupriya Dalmia (Queen Mary University of London, United Kingdom) "HTT Repeat Instability in Family Trios in the 100,000 Genomes Project"
9:05 pm - 9:10 pm
9:10 pm - 9:25 pm
Victor Olmos (Yale University, United States) "Multi Transcriptomic Approach Reveals Splicing Dysregulation in Spinocerebellar Ataxia Type 1"
9:25 pm - 9:30 pm
7:30 am - 8:30 am
9:00 am - 11:00 am
Biomarkers and Therapeutic Targets for Polyglutamine Diseases
Marc Ciosi (University of Glasgow, United Kingdom)
9:00 am - 9:15 am
Annabelle Coleman (University College London, United Kingdom) "Characterising Blood Neurofilament Light Dynamics with Volumetric Brain Changes in Huntington’s Disease"
9:15 am - 9:20 am
9:20 am - 9:35 am
Fiona Kinsella (University College London (UCL), United Kingdom) "Exploring Digital Biomarkers in Huntington's Disease: The Digital-HD Study"
9:35 am - 9:40 am
9:40 am - 9:55 am
Mathilde Louça (CEA, France) "Functional Impacts of Huntingtin Lowering on the Synaptic Activity of Neuron-Glia Networks Derived from Human Induced Pluripotent Stem Cells"
9:55 am - 10:00 am
10:00 am - 10:15 am
Elsa Kuijper (Leiden University Medical Center, The Netherlands) "AON-Mediated Removal of the CAG-Repeat Containing Exon from Ataxin-3 mRNA in SCA3 Mice"
10:15 am - 10:20 am
10:20 am - 10:35 am
Annalucia Darbey (University College London, United Kingdom) "A Muscle Targeted Gene Therapy for Spinal and Bulbar Muscular Atrophy"
10:35 am - 10:40 am
10:40 am - 10:55 am
Kelly Fagan (University of Pennsylvania, United States) "Gene Editing Strategies to Treat Spinocerebellar Ataxia Type 1"
10:55 am - 11:00 am
11:00 am - 12:30 pm
Coffee will be served in the poster area from 11:00 am - 11:30 am
12:30 pm - 1:30 pm
1:30 pm - 2:30 pm
DNA Repair and Somatic Expansion
Carlos Barba (Mcmaster University, Canada)
1:30 pm - 1:40 pm
Christina Peng (McMaster University, Canada) "Analysis of the Temporal Dynamic of Poly(ADP-ribosyl)ation in Huntington's Disease"
1:40 pm - 1:45 pm
1:45 pm - 1:55 pm
Zach McLean (Massachusetts General Hospital and Harvard Medical School, United States) "Small Molecule Splice Modulators Branaplam and Risdiplam Target Huntington’s Disease Modifier PMS1, Reducing CAG Repeat Expansion, and are Affected by Rare Genetic Variation"
1:55 pm - 2:00 pm
2:00 pm - 2:10 pm
Karin Skarping (Lunds University, Sweden) "Huntingtin Gene CAG Repeats in Patients with Lynch Syndrome"
2:10 pm - 2:15 pm
2:15 pm - 2:25 pm
Alan mejia-maza (MGH, United States) "Dissecting the Role of CCCTCT Repeat Instability and Disease Modifiers in X-Linked Dystonia Parkinsonism"
2:25 pm - 2:30 pm
2:30 pm - 3:00 pm
Complete the GRS Evaluation Forms; Election of Future Chair(s)