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4 th Ataxia Investigators Meeting AIM 2012. Henry Paulson, M.D., Ph.D. University of Michigan. History of AIMs. AIM 1998 ? S. Subramony AIM 2005 Tampa, FL John Day AIM 2008 Las Vegas, NV John Day AIM 2010 Chicago, Il Chris Gomez AIM 2012 HERE! Hank Paulson. Overview. Goals

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4 th Ataxia Investigators Meeting AIM 2012

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4 th ataxia investigators meeting aim 2012

4th Ataxia Investigators Meeting AIM 2012

Henry Paulson, M.D., Ph.D.

University of Michigan

history of aims
History of AIMs
  • AIM 1998 ? S. Subramony
  • AIM 2005 Tampa, FL John Day
  • AIM 2008 Las Vegas, NV John Day
  • AIM 2010 Chicago, Il Chris Gomez
  • AIM 2012 HERE! Hank Paulson
  • Goals
  • Attendees
  • Themes
  • High Points
  • Bonus Points
  • Support
  • Future

Dr. Mizusawa, Tokyo

goals of aim 2012
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
Primary Goals
  • Identify common disease mechanisms
  • Explore therapeutic strategies
  • Help establish future leaders of ataxia research

117 Attendees

13 Countries

Portugal, Netherlands, Germany, Japan, United Kingdom, France, Sweden, Canada, Australia, United States, South Africa, Ireland

  • Cerebellar function and dysfunction in ataxia
  • Pathogenesis of dominant ataxias
  • Pathogenesis of recessive and other ataxias
  • Toward therapies through disease mechanisms
  • Working together to advance ataxia research and therapy



keynote speakers
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 speakers1
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 speakers2
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 speakers3
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 speakers4
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
High Points
  • New Researchers
      • 10 Junior Lecturers
      • 15 Poster Presenters with Travel Grants awarded
      • 29 Additional Poster Presenters
ataxia news
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 news1
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
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
Bonus – Satellite Meetings
  • Clinical Research Consortium for the SCAs
  • Retrotope meeting re: development of a novel treatment for Friedreich’s ataxia
thank you to supporters
Thank you to Supporters
  • 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!

  • NAF Staff
  • Steering Committee Members
  • Grand Hyatt San Antonio Staff
  • David Garcia – Photographer
  • You all – for supporting us and inspiring us!
  • Next AIM will be in 2014

stay tuned!