Mount Sinai Center for Undiagnosed Diseases

THE MINDICH CHILD HEALTH AND DEVELOPMENT INSTITUTE

The Undiagnosed Diseases Network (UDN) is a research study 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 living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works.

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Before submitting a case to the UDN, it is important to discuss the study with a health care provider (for example, specialist, primary care physician, nurse practitioner). If you want to submit the case online, you will need an email address and access to the Internet. If you do not have an email address and access to the Internet, you can request a paper case submission form by calling 1-844-RING-UDN (1-844-746-4836). You will also need to ask your health care provider to write a study recommendation letter.

The study recommendation letter must include:

A summary of the participant’s medical problems
Date when symptoms were first noticed
For pediatric participants: prenatal and birth history
Previous diagnoses
History of evaluations and tests
History of treatments and medications
Current medications
Family history
Health care provider’s diagnostic impressions

Once you have the study recommendation letter, you can fill out an online case submission through our website, which we call the UDN Gateway. You will upload the study recommendation letter directly to this website. You may upload medical records directly to this website. You will be provided the opportunity to upload a 1-page patient narrative telling us your story from your perspective and a photo. It should take less than 20 minutes to complete the online case submission. When the UDN has received your case submission, you will receive a confirmation email. The UDN will let you know if more information is needed before your case can be reviewed.

Ideal participants to the UDN include individuals with:

One or more objective findings pertinent to the phenotype for which a UDN case was submitted.
No diagnosis despite evaluation by at least two specialists who assessed the patient for the objective finding(s).
Agreement for 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.
Participants unable to consent can be enrolled.

Participants who are unlikely to be assigned for additional evaluation include individuals with: