OHSU Rare Disease Research Consortium Symposium 2015

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April 7, 2015, from 4-8:30 pm at OHSU in the Joseph Vey Conference Center 11th Floor, Doernbecher Children’s Hospital 700 SW Campus Drive Portland, OR 97239 General Info Register for the conference...it's free! Registration has been reopened as of 11:30 am Friday. It will close again tonight at midnight. Then only walk-in registrations will be accepted at the event. It will be crowded--but terrific! Thank you all for your incredible interest in rare disease research. Sponsors A big Thank You for the support of this conference goes to The OHSU School of Medicine for a Collaborative Grant The OHSU Biochemistry and Molecular Biology Department OHSU Technology Transfer and Business Development OCTRI, the Oregon Clinical and Translational Research Institute OHSU Dean's Office, Communications. Schedule Time Presenter Title 3:30 pm Registration opens (posters can be put up starting at 3pm) 4:00-5:00 Sekar Kathiresan, M.D.,Associate Professor of Medicine, Harvard Medical School, Director of preventive cardiology at Massachusetts General Hospital Leveraging human knockouts to understand risk for and protection from disease 5:00 to 6:10 Poster session and reception 6:10 to 6:20 Mary Stenzel-Poore, Ph.D.Senior Associate Dean for Research, OHSU School of Medicine Introduction to the conference 6:20 to 6:30 Laura Hays, Ph.D., Executive Director, Fanconi Anemia Research Fund Making a difference: the David Frohnmayer advocacy formula 6:30 to 6:35 Maureen Hoatlin, Ph.D.,MBA, Associate Professor Biochemistry and Molecular Biology, co-chair OHSU Rare Disease Research Consortium OHSU Rare Disease Consortium overview and objectives of the symposium 6:35 to 6:45 Eric Orwoll, M.D.., Professor of Medicine, Brittle Bone Disorder Rare Disease Research Clinical Network Osteogenesis imperfecta: a brittle bone disease with well-defined molecular pathologies but limited clinical insights and therapies 6:45 to 6:55 David Sprio, M.D., Chief Medical Officer and Co-founder, ReelDx, Associate Professor of Pediatrics, OHSU A novel real patient video platform that enables patients and clinicians to share rare disease phenotypes 6:55 to 7:05 Evan Shereck, M.D., Associate Professor of Pediatrics Overview of the program in Primary Immune Deficiency Treatment Consortium (PIDTC) 7:05 to 7:10 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 Program in Fanconi anemia 7:10 to 7:20 Cary Harding, M.D., Professor of Molecular and Medical Genetics and Pediatrics Clinical trials in inborn errrors of amino acid and fatty acid metabolism 7:20 to 7:40 David Ellison, M.D.,Professor of Medicine and Physiology & Pharmacology, Director of the Oregon Clinical and Translational Research Institute at OHSU 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 7:40 to 8:20 Xiaobing Quan, M.D., Ph.D, Executive Director, Translational Medicine at Regeneron Pharmaceuticals, Inc. Accelerating opportunities from discovery to clinic in rare disease research 8:20 to 8:25 Maureen Hoatlin, Ph.D, MBA Final remarks, organizing for the future 8:25 to 8:30 Trish Pruis, Ph.D. iPad Giveaway, random drawing of names of conference participants (must be present to win!)