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.

Explore the Center for Undiagnosed Diseases

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:

  1. One or more objective findings pertinent to the phenotype for which a UDN case was submitted.
  2. No diagnosis despite evaluation by at least two specialists who assessed the patient for the objective finding(s).
  3. 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.
  4. Participants unable to consent can be enrolled.

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

  1. Reported symptoms with no relevant objective findings.
  2. A diagnosis explaining objective findings.
  3. A diagnosis suggested on record review.
  4. Unwillingness to share data.

You can call or email the Helpdesk at the UDN Coordinating Center to find out more about:

  • Participating in the UDN research project
  • Eligibility
  • What to include in the study recommendation letter
  • The status of your case submission
  • Requesting a paper case submission form

Hours: Monday-Friday, 9am-5pm (EST)
Email: UDN@hms.harvard.edu
Phone: 1-844-746-4836 (1 844 Ring UDN)

Meet Our Team

Bruce D Gelb, MD
Bruce D Gelb, MD

Principal Investigator

Manisha Balwani, MD, MS
Manisha Balwani, MD, MS

Principal Investigator

Ayuko A Iverson, MD
Ayuko A Iverson, MD

Co-Investigator

Louise Bier, MS
Louise Bier, MS

Co-Investigator

RACHEL EVARD
RACHEL EVARD

Program Manager

Dusan Bogunovic, PhD
Dusan Bogunovic, PhD

Co-Investigator

Susan Shin, MD
Susan Shin, MD

Co-Investigator

Joanna Jen, MD, PhD
Joanna Jen, MD, PhD

Co-Investigator

MARIYA SHADRINA
MARIYA SHADRINA

Co-Investigator

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