OHSU Rare Disease Research Consortium Symposium 2015

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Equipped with his five senses, man explores the universe around him and calls the adventure Science.  ~Edwin Powell Hubble, The Nature of Science, 1954

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

Thank you all for your incredible interest in rare disease research. The OHSU Rare Disease Research Symposium 2015 brought together more than 200 participants including a selection of OHSU's top scientists to showcase our portfolio of rare disease research in “speed talks” plus a poster session/reception, along with a thought-provoking keynote address and special guest lectures.

Video Recording, Pictures and Further Information about the Symposium

Recording of the Symposium use schedule listed below to locate presentations of interest.
Photos of the Symposium
More info on the OHSU Rare Disease Consortium
Contact person Maureen Hoatlin, Ph.D.,MBA (hoatlinm AT OHSU.edu)
Adding info frequently
Speaker Bios, cheatsheets and background reading for the conference.


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.

Individual Thanks for Planning Help

Valerie Scott, Biochemistry and Molecular Biology
Caroline Amling, Gerri Lutes OHSU Events
Rachel Shafer, OHSU Communications
Jackie Wirz, Ph.D.
Abby Dotson

The Rare Disease Research Steering Committee: co-chairs Maureen Hoatlin & Susan Hayflick, Jit Banerjee, Maria Fleseriu, Bobby Heagerty, Penny Hogarth, Jonathan Lindner, Mark Pennisi, Sue Richards, Bob Steiner, Julie Earnest, Leila Schwanemann and Brittany Sale.


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 21 posters including a summary of the OHSU Rare Disease Consortium, plus a poster in remembrance of David Frohnmayer where you will be able to share your memories of this extraordinary champion of rare disease research.
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!)