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Microsatellite DNA Expansions in Rare Genetic Diseases

Available via

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

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.

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
Member
$30
Nonmember Academia, Faculty, etc.
$65
Nonmember Corporate, Other
$85
Nonmember Not for Profit
$65
Nonmember Student, Undergrad, Grad, Fellow
$45
Member Student, Post-Doc, Fellow
$15
Earlybird Registration:
0
days
left
Deadline:
0
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
Laura Ranum, PhD,
University of Florida
Claire Steppan, PhD,
Pfizer

Keynote Speaker

Laura Ranum, PhD**
Laura Ranum, PhD**

University of Florida

Speakers

Christine Bulawa, PhD
Christine Bulawa, PhD

Pfizer

Beverly Davidson, PhD,University of Pennsylvania
Beverly Davidson, PhD,
University of Pennsylvania
Jennifer Farmer, MS, CGC
Jennifer Farmer, MS, CGC

Friedreich's Ataxia Research Alliance

Yuanjing Liu, PhD**
Yuanjing Liu, PhD**

Wave Life Sciences

Christopher Pearson, PhD**
Christopher Pearson, PhD**

The Hospital for Sick Children, University of Toronto

Ekaterina Rogaeva, PhD,University of Toronto
Ekaterina Rogaeva, PhD,
University of Toronto
Peter Todd, MD, PhD,University of Michigan
Peter Todd, MD, PhD,
University of Michigan
Eric Wang, PhD,University of Florida
Eric Wang, PhD,
University of Florida
Vanessa Wheeler, PhD,Massachusetts General Hospital
Vanessa Wheeler, PhD,
Massachusetts General Hospital

** Not Participating in the Webinar

Event Sponsors




Program Supporters




Tuesday

April 16, 2019

8:30 AM

Continental Breakfast and Registration

9:00 AM

Introduction and Welcome Remarks

Speakers

Kari Fischer, PhD
The New York Academy of Sciences
Christine Bulawa, PhD
Pfizer
9:15 AM

Keynote Lecture: RAN Translation in Neurologic Disease: Mechanisms & Therapeutic Opportunities

Speaker

Laura Ranum, PhD**
University of Florida (**not participating in Webinar)

Session 1: Targeting the Repeats

Session Chairperson
Aileen Healy, PhD, Pfizer
10:00 AM

Somatic Expansion as a Driver of Huntington's Disease Pathogenesis

Speaker

Vanessa Wheeler, PhD
Massachusetts General Hospital
10:30 AM

Networking Coffee Break

11:00 AM

Integrating Genetic and Epigenetic Data in C9orf72 Studies

Speaker

Ekaterina Rogaeva, PhD
University of Toronto
11:30 AM

Non-AUG Initiated Translation of Nucleotide Repeats in Fragile X-Associated Disorders

Speaker

Peter Todd, MD, PhD
University of Michigan

Session 2: Data Blitz Talks

Session Chairperson
Christine Bulawa, PhD, Pfizer
12:00 PM

Dissecting the Role of Extra-Cerebellar Regions in Spinocerebellar Ataxia Type 1 Pathogenesis by RNA-seq

Speaker

Rachna Manek, MS
University of Florida
12:05 PM

Identification of Genetic Modifiers of Somatic CAG Repeat Instability

Speaker

Ricardo Mouro Pinto, PhD, MSc
Massachusetts General Hospital; Harvard Medical School
12:10 PM

Assessing Somatic CAG Repeat Instability at the Protein Level

Speaker

Hubert Aviolat, PhD**
MassGeneral Institute for Neurodegenerative Disease (**not participating in Webinar)
12:15 PM

Networking Lunch

Session 3: Co-opting Shared Pathological Consequences of Repeat Expansion for Therapeutic Approaches

Session Chairperson
Laura Ranum, PhD, University of Florida
1:15 PM

Optimization of Gene Silencing Strategies for Huntingdon’s Disease

Speaker

Beverly Davidson, PhD
University of Pennsylvania
1:45 PM

Cas9 Therapy for Myotonic Dystrophy

Speaker

Eric Wang, PhD
University of Florida
2:15 PM

Disease Associated Repeat and Stability

Speaker

Christopher Pearson, PhD**
The Hospital for Sick Children, University of Toronto (**Not participating in Webinar)
2:45 PM

Networking Coffee Break

Session 4: Challenges and Opportunities for Clinical Translation

Session Chairperson
Laura Ranum, PhD, University of Florida
3:15 PM

Paving the Pre-Clinical Path for Drug Development

Speakers

Christine Bulawa, PhD
Pfizer
Jennifer Farmer, MS, CGC
Friedreich's Ataxia Research Alliance
3:45 PM

Stereopure Oligonucleotides for Repeat Expansion Diseases

Speaker

Yuanjing Liu, PhD**
Wave Life Sciences (**not participating in Webinar)
4:15 PM

Panel Discussion: Barriers and Potential Solutions for Drug Development

Speakers

Moderator: Laura Ranum, PhD
University of Florida
Christine Bulawa, PhD
Pfizer
Beverly Davidson, PhD
University of Pennsylvania
Eric Wang, PhD
University of Florida
5:00 PM

Closing Remarks

5:10 PM

Networking Reception

6:10 PM

Adjourn

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