NYAS: Microsatellite DNA Expansions in Rare Genetic Diseases

Call for Abstracts
Deadline: February 15, 2019

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.