Resources for Genetics Professionals — Undiagnosed Diseases Network

The Undiagnosed Diseases Network (UDN) is an NIH-funded research study group involving the collaboration of physicians and scientists at multiple centers in the US.

The purpose of the UDN is to evaluate individuals for whom a diagnosis has eluded the medical community. The primary goals of this network:

• To help individuals and families living with the burden of undiagnosed diseases:
  • By reducing the delay in time to diagnosis of rare or previously unrecognized diseases
  • By providing recommendations for clinical management
• To advance research and contribute to the understanding of rare as well as common diseases

Individuals with at least one objective clinical finding and an undiagnosed disease despite a thorough evaluation by a healthcare provider are eligible to request an evaluation through a UDN center. Referral from a licensed healthcare provider is required. Applications are reviewed, and approximately 50% of applicants are evaluated through the UDN.

Patients accepted for participation in this study are evaluated at one of several clinical sites by a team of relevant specialists (e.g., neurologists, immunologists, nephrologists, endocrinologists, geneticists). Testing may include comprehensive genomic testing and/or metabolomics. If a diagnosis is not identified after clinical evaluation and/or molecular genetic testing, further research testing may be pursued to identify a diagnosis.

To date, the UDN has evaluated more than 580 individuals whose medical conditions had remained undiagnosed despite extensive evaluations. Of these, more than 25% have been provided with a diagnosis.

The UDN also coordinates a Participant Engagement and Empowerment Resource (PEER), which provides past participants with a method of connecting with other individuals with the same or similar rare conditions.

Individuals with an undiagnosed medical condition interested in participating in the UDN research study can learn about this project at undiagnosed.hms.harvard.edu.