| 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
|
|
iPad Giveaway
|
