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CAG Triplet Repeat Disorders (GRS)

Gordon Research Seminar

Commonalities Across CAG Repeat Disorders and Progress in Therapeutic Development

June 10 - 11, 2023
Chairs and

Conference Description

The CAG Triplet Repeat Disorders GRS provides a unique forum for young doctoral and post-doctoral researchers to present their work, discuss new methods, cutting edge ideas, and pre-published data, as well as to build collaborative relationships with their peers. Experienced mentors and trainee moderators will facilitate active participation in scientific discussion to allow all attendees to be engaged participants rather than spectators.

The Gordon Research Seminar on CAG Triplet Repeat Disorders is a one of a kind forum for graduate students, post-docs, and other scientists studying polyglutamine expansion diseases to present and exchange new data and cutting edge ideas.

The main aim of this GRS is to bring junior scientists together from across Huntington’s Disease, Spinocerebellar Ataxias, Spinobulbar Muscular Atrophy, and Dentatorubral Pallidoluysian Atrophy research fields to foster cross-disease collaboration. Updates on the progress in molecular pathogenesis and therapeutic development will be presented. Throughout the meeting, there will be the opportunity for networking with mentors from academia and industry to explore future career opportunities.

Related Meeting

This GRS will be held in conjunction with the "CAG Triplet Repeat Disorders" Gordon Research Conference (GRC). Those interested in attending both meetings must submit an application for the GRC in addition to an application for the GRS. Refer to the associated GRC program page for more information.

Conference Program

Saturday
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
Discussion Leader:
3:45 pm - 4:20 pm
"Perspectives on Huntington's Disease Research and Pathogenic Mechanisms"
4:20 pm - 4:30 pm
Discussion
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Molecular Mechanisms driving Neurodegeneration
Discussion Leader:
7:30 pm - 7:45 pm
"SCA3 Pathogenic Mechanisms are Altered in Primary Oligodendrocyte Cell Culture from YACQ84 Mice"
7:45 pm - 7:50 pm
Discussion
7:50 pm - 8:05 pm
"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
Discussion
8:10 pm - 8:25 pm
"Investigating RNA Editing Dysregulation in Polyglutamine Disorders"
8:25 pm - 8:30 pm
Discussion
8:30 pm - 8:45 pm
"A Novel In Vitro Method to Evaluate Huntingtin's Protective Function"
8:45 pm - 8:50 pm
Discussion
8:50 pm - 9:05 pm
"HTT Repeat Instability in Family Trios in the 100,000 Genomes Project"
9:05 pm - 9:10 pm
Discussion
9:10 pm - 9:25 pm
"Multi Transcriptomic Approach Reveals Splicing Dysregulation in Spinocerebellar Ataxia Type 1"
9:25 pm - 9:30 pm
Discussion
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Biomarkers and Therapeutic Targets for Polyglutamine Diseases
Discussion Leader:
9:00 am - 9:15 am
"Characterising Blood Neurofilament Light Dynamics with Volumetric Brain Changes in Huntington’s Disease"
9:15 am - 9:20 am
Discussion
9:20 am - 9:35 am
"Exploring Digital Biomarkers in Huntington's Disease: The Digital-HD Study"
9:35 am - 9:40 am
Discussion
9:40 am - 9:55 am
"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
Discussion
10:00 am - 10:15 am
"AON-Mediated Removal of the CAG-Repeat Containing Exon from Ataxin-3 mRNA in SCA3 Mice"
10:15 am - 10:20 am
Discussion
10:20 am - 10:35 am
"A Muscle Targeted Gene Therapy for Spinal and Bulbar Muscular Atrophy"
10:35 am - 10:40 am
Discussion
10:40 am - 10:55 am
"Gene Editing Strategies to Treat Spinocerebellar Ataxia Type 1"
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
DNA Repair and Somatic Expansion
Discussion Leader:
1:30 pm - 1:40 pm
"Analysis of the Temporal Dynamic of Poly(ADP-ribosyl)ation in Huntington's Disease"
1:40 pm - 1:45 pm
Discussion
1:45 pm - 1:55 pm
"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
Discussion
2:00 pm - 2:10 pm
"Huntingtin Gene CAG Repeats in Patients with Lynch Syndrome"
2:10 pm - 2:15 pm
Discussion
2:15 pm - 2:25 pm
"Dissecting the Role of CCCTCT Repeat Instability and Disease Modifiers in X-Linked Dystonia Parkinsonism"
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

Contributors

Research reported in this publication was supported by the National Institute Of Neurological Disorders And Stroke of the National Institutes of Health under Award Number R13NS132537. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Conference Links

Conference History CAG Triplet Repeat Disorders
Additional Fee Info

CAG Triplet Repeat Disorders
May 25 - 30, 2025


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