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4th Ataxia Investigators Meeting AIM 2012 Henry Paulson, M.D., Ph.D. University of Michigan History of AIMs • • • • • 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 • • • • • • • 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 • • • • • • • • • 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 • • • • • 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!
