About the Undiagnosed Disease Program (UDP)
What the UDP does
Established in July 2023, the Undiagnosed Disease Program (UDP) was created to solve the most challenging medical mysteries affecting patients today.
Our goals are to:
- Help individual patients and families living with undiagnosed diseases.
- Develop and offer better diagnostic testing for patients with rare diseases or conditions that are difficult to diagnose.
- Identify a medical home for patients to ensure they receive the best care and treatment.
We reach these goals by partnering with our clinical and research experts from across CHOP to ensure we are using the most advanced testing and knowledge for diagnosis and care. Every family who is seen in the Undiagnosed Disease Program is invited to participate in our research program, which allows us to offer testing options that are not yet routinely available for clinical care. This research is what allows our UDP team to apply the most advanced testing and continuously improve our expertise in caring for your child and other families with undiagnosed conditions.
How we work with the National Institutes of Health
You may have heard of the Undiagnosed Diseases Network (UDN), which is a research program funded by the National Institute of Health (NIH). The NIH Undiagnosed Diseases Network includes multiple clinical sites across the country. CHOP established an NIH-funded UDN site in 2019.
The CHOP Undiagnosed Disease Program — created and run through CHOP — was built in 2023 to expand access to much-needed diagnostic support. The CHOP UDP allows us to care for more children with undiagnosed conditions.
We continue to partner with the NIH as a site for the UDN. That means, some patients seen in the CHOP UDP will also be asked if they would like to enroll in the UDN. Just like the UDP, each NIH-funded UDN clinical site, doctors and specialists – such as neurologists, immunologists, nephrologists, endocrinologists and geneticists – collaborate to help find the cause of each child's symptoms and develop potential solutions to treat the underlying disease and/or improve the symptoms.
Collaboration with the UDN Clinical Site at Penn Medicine
Adults may be seen at the NIH-funded UDN site in the Penn Medicine Health System. Learn more about the Penn site or about the application process for the UDN by emailing psom-ocr@pobox.upenn.edu.
Finding a medical home
When visiting the UDP, you may hear us talk about “finding a medical home” for your child. We’re not talking about an actual building, but the clinic or department where your child can receive the care and treatment they require. We know you’ve been on a long journey trying to find the cause of your child’s symptoms. Our goal is to uncover that cause and direct you to the experts who will be able to chart a path forward.
Current research
The Undiagnosed Disease Program at CHOP uses the power of advanced technologies to aid in our research. Research that helps us diagnose our patients and help improve diagnostic strategies around the world.
We firmly believe that sharing knowledge will improve diagnosis for everyone. To that end, all patients enrolled in the UDP agree to share their data. We have rules and processes in place to ensure the privacy and confidentiality of this data. We will make every effort to match our patients with other patients in the network so that everyone benefits from new knowledge.