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Microsatellite DNA Expansions in Rare Genetic Diseases

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

Presented By

Biochemical Pharmacology Discussion Group

The New York Academy of Sciences

 

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.

Call for Abstracts

Abstract submissions are invited for a poster session. For complete submission instructions, please visit our online portal. The deadline for abstract submission is Friday, February 15,2019.

Registration

Member
By 03/04/2019
$90
After 03/04/2019
$130
Nonmember Academia, Faculty, etc.
By 03/04/2019
$180
After 03/04/2019
$260
Nonmember Corporate, Other
By 03/04/2019
$250
After 03/04/2019
$350
Nonmember Not for Profit
By 03/04/2019
$180
After 03/04/2019
$260
Nonmember Student, Undergrad, Grad, Fellow
By 03/04/2019
$100
After 03/04/2019
$145
Member Student, Post-Doc, Fellow
By 03/04/2019
$50
After 03/04/2019
$70
Earlybird Registration:
137
days
left
Deadline:
120
days
left

Organizers

Christine Bulawa, PhD,
Pfizer
Sara Donnelly, PhD,
The New York Academy of Sciences
Kari Fischer, PhD,
The New York Academy of Sciences
Aileen Healy, PhD,
Pfizer
Stefan McDonough, PhD,
Pfizer
Laure Ranum, PhD,
University of Florida
Claire Steppan, PhD,
Pfizer

Keynote Speaker

Laure Ranum, PhD,
University of Florida

Speakers

Beverly Davidson, PhD,
University of Pennsylvania
Peter Todd, MD, PhD,
University of Michigan
Eric Wang, PhD,
University of Florida
Vanessa Wheeler, PhD,
Massachusetts General Hospital

Program Support