– Please note all times are BST.

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2:00 – Welcome from the Co-Chairs (Emily Machiela, University of Central Florida & Celeste Suart, McMaster University)

2:10 – Keynote: Toward understanding polyglutamine diseases: lessons learned as we move forward (Hank Paulson, University of Michigan)

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Session 1: Molecular Mechanisms driving Neurodegeneration

Chairs: David Bushart and Hannah Shorrock

3:00 – Oligodendrocyte maturation is impaired in early SCA3 disease pathogenesis (Kristen Schuster, University of Michigan)

3:15 – The Effects of Expanded Ataxin-7 on Stress Granules (Frida Niss, Stockholm University)

3:30 – Astrocyte metabolic activity is impaired in Huntington’s Disease (Jenny Lange, UK DRI at UCL)

3:45 – Session 1 Rapid Fire Video Presentations
·       Marketta Kachemov, University of California Irvine
·       Ya Zhou, UK DRI at UCL
·       Franziska Hoschek, Ulm University
·       Maria Babu, Deutsches Zentrum für Neurodegenerative Erkrankungen
·       Maximilian Wagner, Ulm University

4:00 – Break

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Session 2: DNA/RNA Targets for Polyglutamine Diseases

Chairs: Charlene Smith-Geater and Carlos Barba Bazan

4:15 – Somatic CAG expansion in Huntington’s disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection (Jennie Roy, Massachusetts General Hospital)

4:30 – The effect of mismatch repair proteins in a Huntington’s disease cellular model (Joseph Stone, Cardiff University)

4:45 – The Mechanism of Replication Stalling and Recovery within Repetitive DNA (Gideon Coster, Institute of Cancer Research)

5:00 – Session 2 Rapid Fire Video Presentations
·       Joseph Hamilton, University College London
·       Amanda Sadan, University College London
·       Sandra Fienko, UK DRI at UCL

5:15 – Break

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Session 3: Diagnostics, Biomarkers and Drug Discovery Initiatives

Chairs: Lauren Byrne and Rachel Harding

5:30 – Poly ADP-ribose binding by huntingtin and signal dysregulation in Huntington’s disease (Tamara Maiuri, McMaster University)

5:45 – Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1 (Laure de Pontual, Sorbonne Université)

6:00 –  Exercise acts via BDNF-TrkB signalling to rescue deficits in a mouse model of spinocerebellar ataxia type 6 (Anna Cook, McGill University)

6:15 – Session 3 Rapid Fire Video Presentations
·       Lien Nguyen, University of Florida
·       Elsa Kuijper, Leiden University Medical Center
·       Nicole Zarate, University of Minnesota
·       Alshaimaa Abdelmoez, Ulm University
·       Amber Southwell, University of Central Florida

6:30 – Closing Remarks (Emily Machiela, University of Central Florida & Celeste Suart, McMaster University)

– Please note all times are BST.

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Session 1: Repeat analysis and dynamics

Chairs: Lesley Jones and Christopher Pearson

2:00 - Introduction to the conference (Lesley Jones, Cardiff University)

2:05 - Short tandem repeat expansions in the 100,000 Genomes Project (Arianna Tucci, Queen Mary University of London)

2:25 - Tandem repeat expansions in complex disorders: beyond the coding sequence (Ryan Yuen, University of Toronto)

2:45 - Rapid Fire Video Presentations
·      Andreas Halman, University of Melbourne
·      Stephanie Tome, Sorbonne Université
·      Alysha Taylor, UK DRI at Cardiff

2:55 - A short tandem repeat in TCERG1 drives association with onset of Huntington’s Disease (Sergey Lobanov, Cardiff University)

3:05 - Identification of repeat expansion mutations using deactivated-Cas9-based repeat enrichment and detection (dCas9-READ) (Lien Nguyen, University of Florida)

3:15 - Genome-wide patterns of de novo mutations at short tandem repeats (Melissa Gymrek, University of California)

3:35 - Discussion (10 minutes)

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Session 2: DNA repair and somatic expansion

Chairs: Ray Truant and Vanessa Wheeler

3:55 – The dynamics of somatic expansion in DM1, HD and related CAG•CTG repeat disorders (Darren Monckton, University of Glasgow)

4:15 - Innerworkings of the human DNA repair machine MutSbet (Lorena Beese, Duke University)

4:35 - How polymerase behaviour sculpts the genomic distribution of short tandem repeats (Julian Sale, MRC Laboratory of Molecular Biology)

4:55 - Huntingtin-lowering treatments that decrease huntingtin transcription reduce CAG-tract somatic instability? (Jeff Carroll, Western Washington University)

5:15 - Ataxin-1 is signalled to DNA damage by ATM kinase (Celeste Suart, McMaster University)

5:25 - Ribosome stalling in CAG expanded mHTT mRNA: a potential mechanism for HD pathogenesis (Srini Subramaniam, The Scripps Research Institute)

5:35 - Somatic CAG expansion in Huntington‚Äôs disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection (Ricardo Mouro Pinto, Massachusetts General Hospital / Harvard Medical School)

5:45 - Discussion (10 minutes)

5:55-6:30 - Plenary: Title TBC (Don Cleveland, Ludwig Institute for Cancer Research)

– Please note all times are BST.

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Session 1: Pathogenic Biology of Expanded Repeats

Chairs: Erich Wanker and Diane Merry

2:00 - Molecular and cellular effects of polyQ-expanded ATXN1 protein aggregation (Spyros Petrakis, Centre for Research and Technology Hellas)

2:20 - Disease mechanism and therapeutic approaches for Kennedy's disease (Kurt Fischbeck, NIH)

2:40 - The incomplete splicing of huntingtin (Gill Bates, UK DRI at UCL)

3:00 - Rapid Fire Video Presentations
·      Patrick van der Wel, University of Groningen 
·      Taylor Brown, University of Minnesota 
·      Kristen Schuster, University of Michigan 
·      Frida Niss, Stockholm University 
·      Joseph Hamilton, University College London

3:10 - Excitatory synapse loss and its in vivo functional correlation with 1H - MRS in the knock-in zQ175(Tg/0) mouse model of Huntington's Disease (Nicole Zarate, University of Minnesota)

3:20 - Structural insights into the HTT-HAP40 complex and the effects of polyglutamine expansion (Rachel Harding, University of Toronto)

3:30 - Loss of proteostasis in Huntington's disease-lessons from Cockayne syndrome (Maximillian Wagner, Ulm University)

4:40 - Extracellular Vesicles in HD (Andreas Neueder, Ulm University)

3:50 - Discussion (10 minutes)

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Session 2: Therapeutic Approaches in Repeat Diseases

Chairs: Christopher Ross and Leslie Thompson

4:05 - Targeting DNA damage repair pathways for trinucleotide repeat expansion diseases (Caroline Benn, LoQus23 Therapeutics)

4:25 - Development of TTX-3360 to treat/prevent HD and other Repeat Expansion Disorders by Halting Somatic Expansion (Irina Antonijevic, Triplet Therapeutics)

4:45 - From Spinal Muscular Atrophy to Huntington's Disease therapeutics (Rajeev Sivasankaran, Novartis)

5:05 - A gene editing approach to contract CAG/CTG repeats (Vincent Dion, UK DRI at Cardiff)

5:25 - Toward absolute huntingtin quantitation (Amber Southwell, University of Central Florida)

5:35 - CK2 alpha prime and alpha-synuclein pathogenic functional interaction mediates inflammation and transcriptional dysregulation in Huntington’s disease (Rocio Gomez-Pastor, University of Minnesota)

5:45 - Discussion (10 minutes)

5:55-6:30 - Plenary: Meeting the Therapeutic Challenge of Huntington's disease (Sarah Tabrizi, UK DRI at UCL)