Rare Disease Day is an annual world-wide event to raise awareness with the general public and decision-makers about rare diseases and their impact on patients’ lives. Here in Philly, join the Penn Center for Orphan Disease Research and Therapy at the World Café Live from 5-7 Friday the 28th for the kickoff celebration of the Million Dollar Bike Ride for rare disease, the Center's own annual grass-roots event. Network with cyclists, learn from orphan disease researchers, and meet families with a direct connection to these efforts.
Orphan/rare diseases represent a collection of disorders that affect fewer than 200,000 individuals for any single disease type, yet there are more than 7,000 distinct orphan diseases. In all, over 25 million people in the United States are afflicted by orphan diseases. Most rare diseases are genetic and present throughout the person's life, even if symptoms do not immediately appear. Many rare diseases do appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday. Despite this huge number, research on most diseases in this group has lagged far behind other major areas due to a combination of technological and funding limitations.
Even though the Rare Disease Day campaign started in Europe, it has progressively spread across the world, with over 70 countries participating in 2013. The hope of the movement is for the World Health Organization to recognize the last day of February as the official Rare Disease Day.
And Penn Medicine is doing its part. The ongoing work at Penn on rare diseases runs the gamut from basic biology to clinical testing. Nearly a third of the projects are in the preclinical stage, with scientists working to uncover molecular and cellular causes for these disorders, which together reach every system in the body. Penn researchers are conducting nearly 300 different projects on 129 rare and orphan diseases.A $10 million grant from an anonymous donor in July 2011 catalyzed establishment of the Center for Orphan Disease Research and Therapy, which brings together an interdisciplinary team of researchers from across the Perelman School of Medicine. The Center aims to promote the development of novel therapeutic strategies and translates these into the clinic, building on partnerships among investigators, academic institutions, industry, and federal and private funding agencies.
To date, the Center has awarded over $4.4 million to researchers on rare diseases. So far these grants have focused on various lysosomal storage diseases, a group of about 50 rare inherited metabolic disorders, but the Center is rolling out plans to broaden its research awards to other rare disease areas.
The Center's first annual Million Dollar Bike Ride will be held Saturday, May 3, 2014. Its funding model is unique compared to other sporting events that raise money for a single medical cause - the race will not benefit just one rare disease, but many.
Individual cyclists can register and raise money for their specific orphan/rare disease foundation. Examples of teams already formed include Bike to End Duchenne, Pitt Hopkins Pedalers, Spin Factor for Hemophilia, Team FARA, Team ALD, Team Cure ML4, LAM Foundation, and Homozygous Familial Hypercholesterolemia. Money raised for a specific rare disease will receive dollar-for-dollar matching funds up to a maximum of $50,000. All money raised by registrations, pledges, direct contributions, and matching funds will be directed to research on behalf of the sponsoring foundation’s rare disease.