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Newswise PHILADELPHIA The University of Pennsylvanias Center for Orphan Disease Research and Therapy will host a symposium on Friday, May 2 detailing developing therapeutics for rare/orphan diseases, as well as a poster session showcasing rare disease research at the Perelman School of Medicine and The Childrens Hospital of Philadelphia. Following the Symposium, on Saturday May 3, the Center is sponsoring the Million Dollar Bike Ride for rare diseases research with a starting/finish line on the Penn Campus at 31 & Chestnut Street. The funds raised from over 350 cyclists at the Ride will be used for the rare disease grants program sponsored by the Center.

When: Friday, May 2, 2014, 8:30am 5:00pm

Where: Smilow Center for Translational Research 3400 Civic Center Boulevard Philadelphia PA, 19104

9:00 - 9:15 AM Welcome and Opening Remarks H. Lee Sweeney, PhD Director, Center for Orphan Disease Research and Therapy 9:15 - 10:00 AM Emil D. Kakkis, MD, PhD Chief Executive Officer and President of Ultragenyx Pharmaceutical, Inc. Improving the Process of Rare Disease Treatment Development 10:00 - 10:45 AM Jerry R. Mendell, MD Director, Center for Gene Therapy, The Research Institute at Nationwide Childrens Hospital Progress Toward Molecular Based Therapies for Neuromuscular Disease 10:45 - 11:00 AM BREAK 11:00 - 11:45 PM Forbes D. Porter, MD, PhD Senior Investigator, Program Head and Clinical Director, NICHD, NIH Development of a 2-hydroxypropyl--cyclodextrin therapeutic trial for Niemann-Pick disease, type C1 11:45 - 12:30 PM Akshay K. Vaishnaw, MD, PhD Executive Vice-President & Chief Medical Officer, Alnylam Pharmaceuticals Inc. Development of a Novel RNAi Therapeutic, Patisiran, for the Treatment of TTRmediated Familial Amyloidotic Polyneuropathy (FAP) 12:30 - 2:00 PM LUNCH 2:00 - 2:45 PM Gwyneth Jane Farrar, PhD Professor of Genetics, Smurfit Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, Ireland Exploration of AAV-Mediated Gene therapies for Inherited Ocular Disorders 2:45- 3:30 PM Edward G.D. Tuddenham MD Emeritus Professor of Haemophilia UCL Katharine Dormandy Haemophilia Centre, Royal Free Hospital "Gene Therapy for Haemophilia B - UCL/St Jude's Trial Update at 4 Years" Agenda and other details can be found on the Center for Orphan Disease Research and Therapy site. Register for this free symposium here.

### Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise. The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 17 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $392 million awarded in the 2013 fiscal year. The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; Chester County Hospital; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine. Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2013, Penn Medicine provided $814 million to benefit our community.

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