Time
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Presenter
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Title
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3:30 pm
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Registration opens (posters can be put up starting at 3pm)
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4:00-5:00
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Sekar Kathiresan, M.D.,Associate Professor of Medicine,
Harvard Medical School, Director of preventive cardiology at Massachusetts General Hospital
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Leveraging human knockouts to understand risk for and protection from disease
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5:00 to 6:10
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Poster session and reception
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6:10 to 6:20
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Mary Stenzel-Poore, Ph.D.Senior Associate Dean for Research, OHSU School of Medicine
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Introduction to the conference
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6:20 to 6:30
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Laura Hays, Ph.D., Executive Director, Fanconi Anemia Research Fund
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Making a difference: the David Frohnmayer advocacy formula
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6:30 to 6:35
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Maureen Hoatlin, Ph.D.,MBA, Associate Professor Biochemistry and Molecular Biology, co-chair OHSU Rare Disease Research Consortium
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OHSU Rare Disease Consortium overview and objectives of the symposium
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6:35 to 6:45
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Eric Orwoll, M.D.., Professor of Medicine, Brittle Bone Disorder Rare Disease Research Clinical Network
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Osteogenesis imperfecta: a brittle bone disease with well-defined molecular pathologies but limited clinical insights and therapies
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6:45 to 6:55
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David Sprio, M.D., Chief Medical Officer and Co-founder, ReelDx, Associate Professor of Pediatrics, OHSU
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A novel real patient video platform that enables patients and clinicians to share rare disease phenotypes
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6:55 to 7:05
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Evan Shereck, M.D., Associate Professor of Pediatrics
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Overview of the program in Primary Immune Deficiency Treatment Consortium (PIDTC)
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7:05 to 7:10
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Markus Grompe, M.D., Fanconi anemia Program Project P.I., Professor, Departments of Pediatrics and Molecular and Medical Genetics, Director, Papé Family Pediatric Research Institute
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Program in Fanconi anemia
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7:10 to 7:20
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Cary Harding, M.D., Professor of Molecular and Medical Genetics and Pediatrics
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Clinical trials in inborn errrors of amino acid and fatty acid metabolism
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7:20 to 7:40
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David Ellison, M.D.,Professor of Medicine and Physiology & Pharmacology, Director of the Oregon Clinical and Translational Research Institute at OHSU
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- Part 1: All about that Bass: rare gene mutations and human blood pressure variation.
- Part 2: How OCTRI can help rare disease research at OHSU
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7:40 to 8:20
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Xiaobing Quan, M.D., Ph.D, Executive Director, Translational Medicine at Regeneron Pharmaceuticals, Inc.
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Accelerating opportunities from discovery to clinic in rare disease research
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8:20 to 8:25
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Maureen Hoatlin, Ph.D, MBA
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Final remarks, organizing for the future
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8:25 to 8:30
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iPad Giveaway, random drawing of names of participants (must be present to win!)
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