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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 Celeste Suart and Branduff McAllister
Mount Snow
89 Grand Summit Way
West Dover, Vermont, United States
 Venue and Travel Information

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: 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
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: 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
Discussion
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
Discussion
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
Discussion
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
Discussion
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
Discussion
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
Discussion
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Biomarkers and Therapeutic Targets for Polyglutamine Diseases
Discussion Leader: 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
Discussion
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
Discussion
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
Discussion
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
Discussion
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
Discussion
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
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: 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
Discussion
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
Discussion
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
Discussion
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
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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