PHILADELPHIA — The University of Pennsylvania’s 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 Children’s 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.
| 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 Children’s 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-β-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, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.
The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.
The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
Penn Medicine is an $11.1 billion enterprise powered by more than 49,000 talented faculty and staff.