Undiagnosed Disease Program
The Undiagnosed Disease Program (UDP) at Children's Hospital of Philadelphia (CHOP) offers personalized care for families struggling to pinpoint the cause of their child's symptoms. Our program was created to give families the medical guidance they need after exhausting other diagnostic options. If your child remains undiagnosed after seeing multiple experts and has a long list of inconclusive or negative test results, we can help.
At the UDP, we partner with CHOP experts to ensure we're using the most advanced diagnostic tools and therapy options. When you visit the UDP, we’ll review your child’s past test results and use specialized diagnostic tools to understand their condition better. Then, we’ll connect your family with a clinical expert who can plan your child’s optimal treatment and management plan.
How we serve you
The Undiagnosed Disease Program is powered by CHOP Omics Initiative and is designed to offer personalized care and treatment. Whether you are looking for a second opinion or to connect with a specific department, we can help.
Why choose us for undiagnosed diseases
The Undiagnosed Disease Program — created and run through CHOP — was implemented in 2023 to expand access to much-needed diagnostic support. The UDP allows us to care for more children with undiagnosed conditions.
Meet our team
Our program is led by Kathleen E. Sullivan, MD, PhD, a physician with special expertise identifying ways to support children with undiagnosed diseases, and includes a core group of doctors, a genetics counselor and coordinators.
Our research
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 ensure the privacy and confidentiality of this data.
Our resources
Caring for a sick child can be overwhelming. To help you find answers to your questions and feel more confident in the care you are providing your child, we’ve created the following health resources.
Patient stories
Finding a diagnosis
We understand sometimes it can be a long journey to find your child’s diagnosis. Our program can help shorten the diagnostic odyssey, build a treatment plan and help your child find a medical home.
What we do
The UDP was created to solve the most challenging medical mysteries affecting patients today. We partner with the National Institute of Health and Penn Medicine to study undiagnosed conditions in children and adults.
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