About the Undiagnosed Diseases Network
What is the Undiagnosed Disease Network (UDN)?
The UDN is a research study funded by the National Institutes of Health Common Fund. The UDN is made up of clinical and research centers across the United States working to improve diagnosis and care of patients with undiagnosed diseases.
What is an undiagnosed disease?
An undiagnosed disease is a medical condition without a known cause despite a lot of evaluation.
A rare disease is a disease that affects fewer than 200,000 people in the United States. There are so many separate rare diseases that, overall, 1 in 10 people have a rare disease.
What is the purpose of the UDN?
The UDN has two main goals:
- To provide answers for patients and families affected by mysterious conditions, and
- To learn more about rare and common diseases.
What is unique about the UDN?
The UDN is trying to solve the most challenging medical mysteries by:
- Bridging the gap between clinical care and research.
- Using genetic data to try to find diagnoses.
- Working with researchers to figure out how diseases affect the body, which may lead to treatments.
- Training other doctors (like neurologists, immunologists, nephrologists, endocrinologists, and geneticists), nurses, genetic counselors, and scientists to use this new approach.
Who is eligible for the UDN?
- Have a condition that remains undiagnosed despite thorough evaluation by a healthcare provider
- Have at least one objective finding
- Agree to the storage and sharing of information and biomaterials in an identified fashion amongst the UDN centers, and in a de-identified fashion to research sites beyond the network
Where are the UDN clinical sites?
- Baylor College of Medicine in Houston, Texas
- Duke Medicine in Durham, North Carolina, with Columbia University Medical Center in New York, New York
- Harvard Teaching Hospitals (Boston Children’s Hospital, Brigham and Women’s Hospital, and Massachusetts General Hospital) in Boston, Massachusetts
- National Institutes of Health Clinical Center in Bethesda, Maryland
- Stanford Medicine in Palo Alto, California
- University of California, Los Angeles in Los Angeles, California
- Vanderbilt University Medical Center in Nashville, Tennessee
UDN Evaluation Process
If I am accepted into the UDN study, what happens next?
You will work with a UDN clinical site to determine the dates for a 2-5 day visit to the clinical site. You will travel to your assigned UDN clinical site for a medical and research evaluation. You may also be asked to provide copies of additional medical records.
What will happen at the clinical site?
You will be asked to enroll in the study and sign a consent form. You will also be asked to provide information about the health of your family members and to give permission for photographs, blood samples, and other samples (such as skin) to be taken.
You may be asked to send a blood sample for genetic testing to the clinical site several weeks before your clinical evaluation. Based on the types of symptoms you have, various medical specialists will evaluate you during your clinical site visit. You will also be asked to fill out some forms and surveys regarding your health and your experience with the UDN before, during, and after the clinical site visit.
The UDN works to provide a similar experience for all UDN participants, however, practices may vary by clinical site.
Will participants also have DNA tested as part of this study?
Most, but not all of the time, blood will be taken for DNA testing. The hope is that DNA testing will help the UDN team diagnose conditions. You will be informed about how your DNA will be used. If available and willing to participate, your biological family members may also provide DNA samples for testing. Your UDN clinical site will determine which family members should be asked to participate. More information about genetic testing through the UDN is available in the Genetic Testing Handout.
There may be people who have a history that suggests that the undiagnosed disease is not genetic. If you suspect an environmental cause of your condition, be sure to say so on the application.
Why might my family members need to be tested?
If your DNA is being analyzed, it is helpful to also get blood from your family members to compare their genetic results with your genetic results. This helps the UDN team to assess the meaning of your results.
What if my family members are unable or unwilling to participate?
You may still qualify to participate. However, this situation may make it harder for the UDN team to find a diagnosis.
What laboratories will do the genetic testing?
Will the UDN evaluations give me a diagnosis?
The goal is to give you a diagnosis, but this may not happen.
Will I receive treatment through the UDN?
No, treatment will usually not be provided as part of the UDN. Treatment will remain your and your referring healthcare provider’s responsibility. But you and your provider may receive treatment recommendations from the UDN.
What is the cost for participating if accepted?
We aim to minimize your out of pocket costs as much as possible. If you are accepted into the UDN, talk with your clinical site representative about any possible charges you may incur.
What happens after the UDN evaluation?
After the UDN evaluation, you and your referring provider will receive the information from the evaluation. Long term care will not be provided by the UDN. Some UDN participants may be eligible for other research studies at the UDN site or other academic centers.
Who can I reach if I still have more questions?
You can call or email the Helpdesk at the UDN Coordinating Center to find out more about:
- Participating in the UDN research project
- What to include in the study recommendation letter
- Status of your application
- Requesting a paper application
Note: please do not contact the main hospital of the UDN clinical sites.