In this post, I link to Undiagnosed Diseases Network webpage from National Institutes of Health – Office of Strategic Coordination – The Common Fund.
All that follows is from the Undiagnosed Diseases Network webpage:
The Common Fund’s Undiagnosed Diseases Network (UDN) is a research study to improve the level of diagnosis of rare and undiagnosed conditions. In the United States, it has been estimated that approximately 25 million Americans suffer from a rare disorder. The UDN established a nationwide network of clinicians and researchers who use both basic and clinical research to uncover the underlying disease mechanisms associated with these conditions. In its first 20 months, the UDN accepted 601 participants undiagnosed by traditional medical practices. Of those who completed their UDN evaluation during this time, 35% were given a diagnosis. Many of these diagnoses were rare genetic diseases including 31 previously unknown syndromes. The UDN is currently accepting participant applications(link is external)..
The National Institutes of Health (NIH) established an intramural research program on undiagnosed diseases in 2008, known now as the Undiagnosed Diseases Program (UDP), to make progress in uncovering, understanding, and treating rare disorders. Building on the success of this program in diagnosing both known and new diseases, the Common Fund’s Undiagnosed Diseases Network (UDN) aims to achieve this type of cross-disciplinary approach to disease diagnosis in academic medical centers around the United States. The NIH Common Fund’s Undiagnosed Diseases Network is promoting the use of genomic data in disease diagnosis and engaging basic researchers to uncover the underlying disease mechanisms so that treatments may be identified. The program is also training clinicians in the use of contemporary genomic approaches to aid in disease diagnosis. The network also benefits from having the capacity to share data and approaches widely throughout the scientific community. The UDN was launched in 2013 and expanded in 2018. It currently contains the following components.
- Twelve Clinical Sites (including the NIH UDP)
- Coordinating Center
- Sequencing Core
- Two Model Organisms Screening Centers
- Metabolomics Core
- Central Biorepository
The goal of the Common Fund Program is to form a sustainable national resource to diagnose both rare and new diseases, advance laboratory and clinical research, enhance global coordination and collaboration among laboratory and clinical researchers, and share resulting data and approaches throughout the scientific and clinical communities.
Please see example referral letters that are helpful for clinicians who are writing a letter for their patient to apply to the program. There are three pediatric example letters and one adult example letter.