4th Ataxia Investigators Meeting
AIM 2012
Henry Paulson, M.D., Ph.D.
University of Michigan
History of AIMs
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AIM 1998 ?
AIM 2005
AIM 2008
AIM 2010
AIM 2012
Tampa, FL
Las Vegas, NV
Chicago, Il
HERE!
S. Subramony
John Day
John Day
Chris Gomez
Hank Paulson
Overview
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Goals
Attendees
Themes
High Points
Bonus Points
Support
Future
Dr. Mizusawa, Tokyo
Goals of AIM 2012
• To create a forum for
presenting the latest
developments in
translational research
on ataxia by senior and
selected junior
investigator with three
primary goals.
Primary Goals
1. Identify common disease mechanisms
2. Explore therapeutic strategies
3. Help establish future leaders of ataxia
research
Attendees
117 Attendees
13 Countries
Portugal, Netherlands, Germany,
Japan, United Kingdom, France, Sweden,
Canada, Australia, United States, South
Africa, Ireland
Attendees (well, some of them)
• Insert Photo
Themes
• Cerebellar function and dysfunction in
ataxia
• Pathogenesis of dominant ataxias
• Pathogenesis of recessive and other
ataxias
• Toward therapies through disease
mechanisms
clinical • Working together to advance ataxia
research and therapy
basic
Keynote speakers
Huda Zoghbi, M.D., is
professor of Pediatrics, Neurology,
Neuroscience and Molecular and
Human Genetics at Baylor college of
Medicine and serves as an
Investigator with the Howard Hughes
Medical Institute.
“Toward Therapy in SCA 1”
Keynote speakers
Nancy Bonini, Ph.D., Professor of
Biology, University of Pennsylvania
Investigator of the Howard Hughes
Medical Center
“Multiple triggers to neuronal
death”
Keynote speakers
Christian DeZeeuw, Ph.D. ,
Professor and Chair at the Department of
Neuroscience at Erasmus Medical Centre in
Rotterdam and Scientific Co-Director of the
Netherlands Institute for Neuroscience of
the Royal Dutch Academy of Arts and
Sciences in Amsterdam.
“New insights into the role of the
cerebellum in health and
disease”
Keynote speakers
Helene Puccio, Ph.D., is the
Research Director of the
Pathophysiology of Recessive Ataxia
group at the IGBMC.
“New insights into
mechanisms of recessive
ataxias”
Keynote speakers
Dr. Berch Griggs MD,
is
Professor of Neurology, Medicine,
Pathology and Laboratory Medicine and
Pediatrics at the University of Rochester
School of Medicine and Dentistry.
“Designing Clinical Trials for Rare
Diseases”
High Points
• New Researchers
• 10 Junior Lecturers
• 15 Poster Presenters with Travel Grants awarded
• 29 Additional Poster Presenters
Ataxia News
• New Ataxia Information
• New disease gene! SCA19 (a potassium channel gene)
• New disease gene! pontocerebellar hypoplasia (Rrp40
mutation, component of the exosome)
• Toward possible genetic factors in MSA
• Altered cerebellar neuron function in several dominant
ataxias (e. SCA3, SCA5)
• Unexpected behavior of expanded repeats in several
diseases (e.g. SCA8, FXTAS)- maybe toxicity is more
complicated than we thought?
• Ataxia telangiectasia disease protein implicated in more
pathways than previously thought
Ataxia News
• Toward possible therapies
• Disease gene silencing in SCA3 and SCA6
• “Couple cups of coffee in SCA3”?
• Inhibiting phosphorylation, enhancing growth factor
(VEGF) function, in SCA1
• Searching for surrogate disease markers in ataxia
through imaging (e.g., SCA1)
• Learning more about the earliest signs of disease (e.g.
SCA’s)
• Many classes of compounds still in the hunt for therapy
in Friedreich’s ataxia
NIH Participation
• John Ferguson, M.D.(Office of Rare Diseases)
-“I am so proud our office is participating in and
supporting this conference”
• Wendy Galpern, M.D., Ph.D. (clinical trials)
-Introduction to NeuroNext
• Katrina Gwinn, M.D. (ataxia research)
Bonus – Satellite Meetings
• Clinical Research Consortium for the SCAs
• Retrotope meeting re: development of a
novel treatment for Friedreich’s ataxia
Bonus – investigator interactions with
NAF membership
Thank you to Supporters
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Anonymous Donor
Ataxia UK
Ataxia Ireland
Athena Diagnostics, Inc.
A-T Children’s Project
Bob Allison Ataxia Research Center (BAARC)
Friedreich’s Ataxia Research Alliance (FARA)
Macklin Foundation
National Institute of Neurological Disorders and Stroke (NINDS)
• Office of Rare Disease Research (ORDR)
…and thank you to the participants!
Acknowledgements
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NAF Staff
Steering Committee Members
Grand Hyatt San Antonio Staff
David Garcia – Photographer
You all – for supporting us and inspiring us!
Future
• Next AIM will be in 2014
stay tuned!