Orphan Disease Center

Events

 

Attention all MDBR riders, volunteers, and friends!

Congratulations again on another successful bike ride this past May 2017! We wanted to do something fun during the off-season before we see you again in 2018. In addition to your bike riding skills, we now want to appreciate your creative talents off the course. The Orphan Disease Center is excited to host its first Million Dollar Bike Ride Art Contest! The MDBR Art Contest is open to all members of the rare disease community: patients, caregivers, friends and family members. 

Entries will be judged through  an internal panel, and a total of 6 winners will be selected. Winners will receive FREE registration for the 2018 Million Dollar Bike Ride and a complimentary MDBR cyclist jersey! (You can use this free registration for yourself, or gift it to a friend or family member.)

Artwork of any medium is eligible (paintings, drawings, photographs, digital art, sculpture, etc.) as long as you can submit a high-resolution digital image/photo of the work, at least 300 dpi. Use your artwork to tell a story about your rare disease experience. This is open to interpretation - be creative! Each artist can submit ONE entry.

There are three categories: Children (up to age 11); Teens (ages 12-18); Adult (19+).

All submitted artwork will be displayed in a slideshow at the 2018 MDBR, and at our Rare Disease Day event in February, 2018. The 6 winning entries will also be printed and permanently installed in the offices of the Orphan Disease Center.

Entries can be submitted using this form, starting today. All submissions are due by the end of the day on February 1st, 2018. An internal panel will judge the entries once submissions have closed. See PDF for a full description of contest rules and requirements.


Million Dollar Bike Ride Art Contest Entry Form


We look forward to seeing your unique artistic talents!

For questions about the art contest, please email Samantha Miller at milles@upenn.edu.

 

 

 

 

Deciphering Beckwith-Wiedemann Syndrome

Sponsored by:

Children’s Hospital of Philadelphia, Orphan Disease Center, Perelman School of Medicine at the University of Pennsylvania, and Alex’s Lemonade Stand Foundation

The Division of Human Genetics and the Cancer Predisposition Program at Children’s Hospital of Philadelphia presents a conference on Diagnosis and Management of Beckwith-Wiedemann syndrome (BWS).  The 2017 course will be held at Children’s Hospital of Philadelphia in the Ruth and Tristram Colket, Jr. Translational Research Building starting the evening of Friday, July 21, 2017, and running through lunch on Sunday, July 23.

This course is intended for practicing clinicians who care for children, including, but not limited to, pediatricians, family practitioners, general practitioners, genetic counselors, nurse practitioners, nurses, physician assistants, physicians-in-training and other allied healthcare professionals. Other specialists are welcome to attend.  Participants will receive current information on Beckwith-Wiedemann syndrome in neonates, children and adolescents. Parallel sessions are open to families and caregivers of children with BWS and adults with BWS.

Registration fee includes course materials, opening reception, continental breakfasts, refreshments, lunch and parking on campus.  If you have any questions, please feel free to contact us at (215) 590-5263.  We look forward to seeing you there.

If you are interested in attending this conference register online at:

chop.cloud-cme.com

 

RARE Patient Advocacy Symposium

Sharing Patient Voices Throughout the Drug Research and Development Process

A Partnership of Global Genes and the Penn Medicine Orphan Disease Center

Global Genes, in partnership with the Penn Medicine Orphan Disease Center, will be hosting the 2nd annual RARE Patient Advocacy Symposium in conjunction with the Million Dollar Bike Ride (MDBR) event in which teams supporting a variety of rare diseases ride to raise money for research projects that benefit their communities.
The symposium is open to all affected rare disease patients and caregivers who will come together for a full day program to learn, connect and be inspired.  This year’s program will focus on rare disease research, drug development, and the patient advocacy organization’s role in the process.

 

Topics include:

  • The Drug Research and Development Roadmap:  How Patients Share Their Voices.

  • What Should Patients Expect when Funding Basic Research for Rare Disease.

  • Developing Strong Partnerships Between Patient Groups and Industry.

  • No Longer Just the Research Subject:  New Roles for Patients in Clinical Trials

  • Raising Funds to Support Rare Disease Research at All Stages:  Bike Rides, Bake Sales, Research Grants, and More

 

 

Million Dollar Bike Ride

Click here for more MDBR Details

The 4th annual Million Dollar Bike Ride will be held on Saturday, May 20th, 2017 at Highline Park (31st & Chestnut Streets).  The ride includes 12, 33 and 72 mile route options, 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 scharle@upenn.edu or (215) 573-6822 or visit www.milliondollarbikeride.org to register!

                                                 

 

Scientific Symposia

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.

DMD Symposium

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