Assuring access to transformative therapies for all rare disease communities.

Connecting the dots

Research and funding for orphan diseases is grossly unmet. ODC provides technological and educational resources, identifies funding opportunities, and fosters therapeutic development and innovative research.

The new CDKL5 Registry is now live! 

The CDLK5 Registry collects data for research and pharmaceutical development, as well as helps caregivers track their loved one’s symptoms. Only legal guardians can participate.While the CDKL5 Registry has been open since 2018, it has been re-designed to be more user-friendly. The LouLou Foundation and Orphan Disease Center worked together to update and re-launch the platform.

The CDKL5 Registry is part of a larger CDKL5 ecosystem, including the International CDKL5 Disorder Database and Connect CDKL5. It is being developed in collaboration with Telethon Kids and IFCR. There is also an agreement in place to allow de-identified data from the CDKL5 Registry to be shared with IDCC, for those who choose to participate in both platforms.

The CDKL5 Registry is available in English for now but will be multi-lingual by the end of 2020.

Register your child today!

Click here for more information


Orphan Disease Center 2020 Fundraiser (Short Event Version)

In the United States, orphan diseases represent a collection of disorders that afflict fewer than 200,000 individuals for any single disease type. There are more than 7,000 distinct orphan diseases.

In the aggregate, over 25 million people in the United States suffer substantial morbidity and mortality from orphan diseases. Despite this huge number, research in most disease types has lagged far behind other major areas due to a combination of technological and funding limitations.

The Orphan Disease Center of the University of Pennsylvania exists to facilitate and fund research, and develop transformative therapies for rare diseases with significant unmet need.  

We aim to make rare disease research accessible, collaborative, and sustainable.

Programs & Initiatives

Grant Opportunities

Jump Start

Million Dollar Bike Ride

International Patient Registry

In The News

February 26, 2019

Amicus Establishes Global Research and Gene Therapy Center of Excellence in Philadelphia

CRANBURY, N.J. and PHILADELPHIA, Feb. 26, 2019 (GLOBE NEWSWIRE) -- Amicus Therapeutics today announced it is establishing a new Global Research and...

October 25, 2017

Meaningful Data Drives Better Trial Design and Faster Drug Approvals

But data for rare diseases can be difficult to obtain, which is why patient registries are playing an increasingly important role in helping bridge...

Meaningful Data Drives Better Trial Design and Faster Drug Approvals