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WEBINAR
Microsatellite DNA Expansions in Rare Genetic Diseases
Tuesday, April 16, 2019
The New York Academy of Sciences, 7 World Trade Center, 250 Greenwich St Fl 40, New York
Repeat expansion disorders encompass a heterogeneous group of more than 40 rare genetic diseases including Huntington disease, ALS/FTD, myotonic dystrophy, and spinocerebellar ataxias. While these neurodegenerative diseases are clinically diverse, they are all the result of the expansion of DNA microsatellite repeats, most frequently trinucleotide repeats. Although the sequences and length of repeats differ between diseases, common mechanisms underlie their pathology. Aberrant DNA repair and replication pathways are implicated as well as dysfunction in transcription and translation processes, and repeat-associated non-ATG translation. Given the severity of these diseases and the lack of effective therapeutics, there is an urgent need to improve our understanding of the mechanisms underlying the expansion of DNA microsatellite repeats. This event will explore recent developments in our knowledge of the biological processes driving repeat expansion diseases, as well as strategies for effective therapeutic intervention, and barriers to drug discovery.
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Tuesday
April 16, 2019
Continental Breakfast and Registration
Introduction and Welcome Remarks
Speakers
Keynote Lecture: RAN Translation in Neurologic Disease: Mechanisms & Therapeutic Opportunities
Speaker
Session 1: Targeting the Repeats
Somatic Expansion as a Driver of Huntington's Disease Pathogenesis
Speaker
Networking Coffee Break
Integrating Genetic and Epigenetic Data in C9orf72 Studies
Speaker
Non-AUG Initiated Translation of Nucleotide Repeats in Fragile X-Associated Disorders
Speaker
Session 2: Data Blitz Talks
Dissecting the Role of Extra-Cerebellar Regions in Spinocerebellar Ataxia Type 1 Pathogenesis by RNA-seq
Speaker
Identification of Genetic Modifiers of Somatic CAG Repeat Instability
Speaker
Assessing Somatic CAG Repeat Instability at the Protein Level
Speaker
Networking Lunch
Session 3: Co-opting Shared Pathological Consequences of Repeat Expansion for Therapeutic Approaches
Optimization of Gene Silencing Strategies for Huntingdon’s Disease
Speaker
Cas9 Therapy for Myotonic Dystrophy
Speaker
Disease Associated Repeat and Stability
Speaker
Networking Coffee Break
Session 4: Challenges and Opportunities for Clinical Translation
Paving the Pre-Clinical Path for Drug Development
Speakers
Stereopure Oligonucleotides for Repeat Expansion Diseases
Speaker
Panel Discussion: Barriers and Potential Solutions for Drug Development
Speakers