Saturday
1:00 pm - 5:00 pm
Arrival and Check-in
3:00 pm - 3:15 pm
Introductory Comments by GRC Staff / Welcome and Introduction from the Chairs
3:15 pm - 4:00 pm
Keynote Session: Pathology of Somatic CAG Repeat Expansion
3:15 pm - 3:45 pm
"The Pathogenic Consequences of Somatic CAG Repeat Expansion"
3:45 pm - 4:00 pm
Discussion
4:00 pm - 5:30 pm
Poster Session
5:30 pm - 7:30 pm
Mechanisms of Neurodegeneration
5:30 pm - 5:40 pm
"Distinct Molecular Patterns in R6/2 HD Mouse Brain: Insights from Spatiotemporal Transcriptomics"
5:40 pm - 5:45 pm
Discussion
5:45 pm - 5:55 pm
"Modeling Early Cellular and Molecular Features of Huntington’s Disease in Human Stem Cell-Derived Cortical Organoids"
5:55 pm - 6:00 pm
Discussion
6:00 pm - 6:10 pm
"Integrated Analysis Highlights Impairment of PGC-1 Alpha as a Mediator of SBMA Skeletal Muscle Pathology"
6:10 pm - 6:15 pm
Discussion
6:15 pm - 6:25 pm
"Global Transcriptomic Shifts in Early Stages of DRPLA Disease in a Fly Model"
6:25 pm - 6:30 pm
Discussion
6:30 pm - 6:40 pm
"Huntingtin is an RNA Binding Protein and Participates in NEAT1 -Mediated Paraspeckles"
6:40 pm - 6:45 pm
Discussion
6:45 pm - 6:55 pm
"Molecular Mechanisms of Degeneration in Spinocerebellar Ataxia Type 3: Transcriptomic Insights from the Spinal Cord"
6:55 pm - 7:00 pm
Discussion
7:00 pm - 7:10 pm
"Striatal Pathology Contributes to Motor Deficits in Spinocerebellar Ataxia Type 1 (SCA1) Mice"
7:10 pm - 7:15 pm
Discussion
7:15 pm - 7:25 pm
"Aberrant Splicing in Huntington’s Disease Accompanies Disrupted TDP-43 Activity and Altered m6A RNA Modification"
7:25 pm - 7:30 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Biomarkers, Therapeutic Approaches and Epidemiology
9:00 am - 9:15 am
"CRISPR Interference-Mediated Silencing of ATXN2 to Mitigate Pathological Features in Spinocerebellar Ataxia Type 2 Patient-Derived Neurons"
9:15 am - 9:20 am
Discussion
9:20 am - 9:35 am
"Increased Frequency of Repeat Expansion Mutations Across Different Populations"
9:35 am - 9:40 am
Discussion
9:40 am - 9:55 am
"Extracellular Vesicles Contain Huntingtin and Present a Potential Biomarker for Huntington Disease"
9:55 am - 10:00 am
Discussion
10:00 am - 10:15 am
"Increasing CAG Repeat Length in the Huntingtin Gene is Associated with Smaller Subcortical Brain Volumes in Individuals that have Normal and Intermediate Alleles"
10:15 am - 10:20 am
Discussion
10:20 am - 10:35 am
"Exploring DNA Repair Complex Modifications in Huntington’s Disease"
10:35 am - 10:40 am
Discussion
10:40 am - 10:55 am
"Multi-Study Harmonization of Plasma Neurofilament Light Protein Levels in Huntington’s Disease"
10:55 am - 11:00 am
Discussion
11:00 am - 12:30 pm
Poster Session
Coffee will be served in the poster area from 11:00 am - 11:30 am
12:30 pm - 1:30 pm
Lunch
1:30 pm - 2:30 pm
Genetic Modifiers and Somatic CAG Repeat Expansion
1:30 pm - 1:45 pm
"In Vivo Crispr-Cas9-Mediated Knockout To Assess Somatic Instability Impact On Huntington's Disease Phenotypes And Therapeutic Implications"
1:45 pm - 1:50 pm
Discussion
1:50 pm - 2:05 pm
"Somatic Expansion and Loss of Interruption Variants in Huntington Disease: Insights from Peripheral Blood and Postmortem Brain Tissues"
2:05 pm - 2:10 pm
Discussion
2:10 pm - 2:25 pm
"The Role of PMS1 ATPase Activity in Somatic CAG Repeat Expansion"
2:25 pm - 2:30 pm
Discussion
2:30 pm - 3:00 pm
Evaluation Period
Complete the GRS Evaluation Forms; Election of Future Chair(s)
3:00 pm
Seminar Concludes