How to Participate
Please read the following page before submitting your case. To access the case submission portal, click the yellow button at the bottom of the page.
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
Through this study, we hope to both help individual patients and families and contribute to the understanding of how the human body works.
Requirements for Online Case Submission
If you decide to submit your case for this study, you will need to answer a series of brief questions through our case submission portal, the UDN Gateway, related to the following:
- Contact information
- Demographic information
- Health care provider information (name, address, phone, fax, email)
- Brief medical history questions
- Previous evaluations
- Travel limitations
A study recommendation letter from a health care provider (for example, specialist, primary care physician, nurse practitioner) is also necessary in order to submit the online case submission to the UDN. The letter must be written in English, signed, and on letterhead. A relative cannot write the letter. The study recommendation letter must include:
- A summary of the participant’s medical problems
- Date when symptoms were first noticed
- For pediatric patients: prenatal and birth history
- Previous diagnoses
- History of evaluations and testing
- History of treatments and medications
- Current medications
- Family history
- Health care provider’s diagnostic impressions
We have prepared a sheet of information for you to share with your provider, as well as a set of example study recommendation letters.
Please provide us with any medical records you have. The medical records must be in English. We will request all the records from the start of the participant’s symptoms, including:
- Specialist consultant notes (such as cardiologist, gastroenterologist, neurologist, geneticist)
- Diagnostic laboratory studies, such as biochemical lab results
- Genetic testing results (full reports)
- Biopsy reports
- Radiology reports
- Imaging studies, including their reports (MRI, ultrasound, X-rays) which must be obtained from the Radiology department of the hospital where they were performed.
- Admission and discharge summaries from relevant hospitalizations
- Photographs of the participant’s face and anything relevant to the medical condition
- Short videos (30-60 seconds), if health concerns include specific movements or seizures
- Prenatal and newborn records, for pediatric participants
- Growth curves, for pediatric participants
If you do not have some or all of your medical records when you are submitting your case, you may submit your case without them. If we need any additional records, we will contact you after your case is submitted to request them.
If you would like assistance with uploading your medical records, please contact us at the UDN Helpdesk.
Please provide us with a 1-page patient narrative telling us your story from your perspective. We will have received the letter from your referring provider, but the narrative may help the UDN understand your medical history directly from you. Sometimes photos help the UDN team better understand the symptoms the participant is experiencing. If you would like to provide a narrative and/or photo, please upload it to the case submission.
Medical Records Review Process
After a case submission is complete and submitted in the Gateway, participants receive an email notification. The case is then sent to one of the UDN clinical sites to review. The UDN may contact participants within one month of case submission to request additional information, such as medical records.
After all the requested information is received by a UDN clinical site, it typically takes 6-8 weeks for the network to decide if the case will be assigned to additional evaluations.
Start Case Submission
Contact Information
Hours: Monday–Friday, 9am – 5pm ET
Email: UDN@hms.harvard.edu
Phone: 1-844-746-4836 (1 844 Ring UDN)