Agenda

Ataxia
Supported by the National Institutes of Health (NIH grant 5R13NS040925-09), the Child Neurology Society
and the National Ataxia Foundation

7:30 AM – 7:40 AM
Opening Comments
Bernard L. Maria, MD, MBA, Principal Investigator
Georgia Health Sciences University, Augusta, Georgia
Story Landis, PhD
Director of NINDS

7:40 AM – 9:45 AM
SESSION I: INTRODUCTION AND CLINICAL FEATURES
Co-Director and Moderator: David Lynch, MD, PhD
Children’s Hospital of Philadelphia

7:40 AM – 8:10 AM
Overview of Childhood Ataxia
Co-Director: Brent Fogel, MD, PhD
University of California Los Angeles

8:10 AM – 8:30 AM
Clinical Features of Friedreich Ataxia (FRDA)
Martin Delatycki, MBBS, PhD, FRACP
Bruce Lefroy Centre for Genetic Health Research

8:30 AM – 8:50 AM
Cardiomyopathy in FRDA
Mark Payne, MD
Indianapolis University School of Medicine

8:50 AM – 9:10 AM
Genetics of FRDA / Issues in Study of Rare Diseases
Jennifer Farmer, MS,CGC
Friedreich’s Ataxia Research Alliance

9:10 AM – 9:30 AM
Question and Answer Session

9:30 AM – 9:50 AM
Coffee Break

9:50 AM – 11:30 AM
SESSION II: PROGRESS TO DATE FRIEDREICH’S ATAXIA
Co-Director and Moderator: Christopher W. Gomez, MD, PhD
University of Chicago

9:50 AM – 10:10 AM
New Pathways
Massimo Pandolfo, MD
Free University of Brussels

10:10 AM – 10:30 AM
Epigenetic Controls
Joel Gottesfeld, PhD
The Scripps Research Institute

10:30 AM – 10:50 AM
Therapeutic Developments
Rob Wilson, MD, PhD
University of Pennsylvania Medical Center

10:50 AM – 11:10 AM
Clinical Trials Results
Susan Perlman, MD
University of California Los Angeles

11:10 AM – 11:30 AM
Question and Answer Session

11:30 AM – 1:00 PM
Lunch and Presentation by National Ataxia Foundation

1:00 PM – 2:40 PM
SESSION III: NEW INVESTIGATIONS IN FRIEDREICH’S ATAXIA
Co-Director and Moderator: Susan Perlman, MD
University of California Los Angeles

1:00 PM – 1:20 PM
Clinical Measures
David Lynch, MD, PhD
Children’s Hospital of Philadelphia

1:20 PM – 1:40 PM
Insulin Resistance
Steve Willi, MD
Children’s Hospital of Philadelphia

1:40 PM – 2:00 PM
Cardiac Approaches
Subha Raman, MD
Ohio State University

2:00 PM – 2:20 PM
Non-motor Investigations – Speech/Hearing
Gary Rance, PhD
University of Melbourne

2:20 PM – 2:40 PM
New Dilemmas in Diagnosis
Grace Yoon, MD
The Hospital for Sick Kids, Toronto

2:40 PM – 3:00 PM
Question and Answer Session

3:00 PM – 3:20 PM
Coffee Break

3:20 PM – 3:50 PM
EXECUTIVE SUMMARY OF THE DAY
Gihan Tennekoon, MD, PhD
The Children’s Hospital of Philadelphia

3:50 PM – 4:50 PM
SESSION IV: FUTURE DIRECTIONS PANEL DISCUSSION
Moderator: Katrina Gwinn, MD
NIH/NINDS

3:50 PM – 4:50 PM
SESSION IV: FUTURE DIRECTIONS PANEL DISCUSSION
Moderator: Katrina Gwinn, MD
NIH/NINDS

Tom Crawford, MD Johns Hopkins University	Billie DiMauro, MD Columbia University	Michio Hirano, MD Columbia University
Kathy Mathews, MD University of Iowa	George (Chip) Wilmot, MD, PhD Emory University	Christopher W. Gomez, MD, PhD University of Chicago

4:50 PM – 5:00 PM
Closing Comments and Thanks
Bernard L. Maria, MD, MBA, Principal Investigator
Georgia Health Sciences University