Rare Disease Day
On Monday, February 29, 2016, the Orphan Disease Center and Keswick Cycle will host a happy hour from 5:30pm - 7:30pm at the West Philadelphia Keswick location. Rare Disease Day is an internationally-observed day dedicated to raising awareness about the rare disease community, and the challenges they face. The ODC is proud to take part in honoring this community, and draw much-needed attention to the impact that orphan diseases have on millions of individuals worldwide. See below for more details. We hope you'll join us!
Million Dollar Bike Ride
The third annual Million Dollar Bike Ride will be held on Saturday, May 7th, 2016 at Highline Park (31st & Chestnut Streets). Registration opens this fall. The ride includes a 12, 33, or 73 mile option, and plenty of refreshments and entertainment for post-ride. Whether you're an avid or beginner cyclist, we hope you'll join us to raise awareness and much-needed funds for rare disease research! For questions, contact Samantha Charleston at firstname.lastname@example.org or (215) 573-6822.
Visit www.milliondollarbikeride.org for more details.
Click here for more information.
The Orphan Disease Center will facilitate several scientific symposia throughout the year focusing on varying areas of rare disease research and therapy. For an opportunity to co-host a symposium on your rare disease focus, please submit a proposal through the link below.
Click here to submit a proposal.
Congenital Hypoglycemia Disorders: Hyperinsulinism and GSD
Date: April 14-April 15, 2016, 8:00 am - 5:00 pm
Course Overview: This two-day international symposium will be an update on recent exciting advances in research related to congenital hyperinsulinism and other inherited hypoglycemia disorders, particularly disorders of glycogenoses. The symposium is intended to enhance the clinical management skills and practices of endocrinologists, metabolism specialists, neonatologists, surgeons, pathologists, radiologists, geneticists and nurses, as well as basic scientists interesed in pancreatic islet biology and regulation of glucose metabolism.
This is Crosby, and he has congenital hyperinsulinism. When he was born, his blood sugar dropped dangerously low and he was at constant risk of brain damage. When he was one week old, 98% of his pancreas had to be removed because he made too much insulin. He still makes too much insulin and depends on daily injections of octreotide and a continuous infusion dextrose drip through a feeding tubte to keep him alive and his brain safe. (Learn more at congenitalhi.org).
"The ODC is a rare place of hope for the rare disease community. It funds projects to support research that will lead to better treatments and possibly a cure for Crosby's condition, as well as many other rare diseases." -Julie Raskin, Executive Director, Congenital Hyperinsulinism International.
On Thursday, April 2nd and Friday, April 3rd, Dr. Jim Wilson and the Orphan Disease Center hosted a scientific symposium on Duchenne Muscular Dystrophy. Leading scientists, researchers, and industry members in the DMD field participated in this two-day conference at Penn to share pre-clinical data, discuss clinical issues, immunology, AAV manufacturing, and the future of gene therapy for DMD.
Drug Discovery for Nonsense Mutations in Cystic Fibrosis
On Wednesday, January 21st, 2015, Dr. Kevin Foskett, the Isaac Ott Professor and Chair of the Department of Physiology in the Perelman School of Medicine at the University of Pennsylvania, in partnership with The Orphan Disease Center and Emily's Entourage, hosted a scientific symposium to accelerate research for nonsense mutations of Cystic Fibrosis. Leading CF experts from industry, academia and the Cystic Fibrosis Foundation joined together to collaborate, share research and ideas, and establish an agenda for the development of new treatments for nonsense CF mutations.
Participants enjoyed a cocktail reception and dinner in advance of the symposium at The White Dog Cafe.
Cystic Fibrosis Symposium with Emily's Entourage
For more information about Emily's Entourage, see https://emilysentourage.org