The Common Fund’s Undiagnosed Diseases Network (UDN) is a research study to improve and accelerate diagnosis of rare and undiagnosed conditions. The UDN uses both basic and clinical research to improve the level of diagnosis and uncover the underlying disease mechanisms associated with these conditions.
The Cause of a Rare Neurological Disorder Uncovered by the UDN. Researchers from the Undiagnosed Diseases Network have found the cause of a rare genetic disorder by combining the efforts of clinical and laboratory scientists. Read more about this study.
A single mutation acts as a molecular switch for sex determination. By comparing DNA sequences from four families with sex development disorders, researchers from the Undiagnosed Diseases Network have found a single mutation that can act as a molecular switch to change the fate of sex determination but only one of these families was from the UDN. Read a brief description of the research.
Read More about the Undiagnosed Diseases Network
- The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. The UDN marker paper describing the goals, components, and implementation of the network.
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. This paper contains numerous examples from the UDP on how investigating undiagnosed individuals advances understanding of a wide range of diseases.
- Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. This paper describes the establishment of the Undiagnosed Diseases Network International (UDNI) which is modeled in part after the NIH UDP. Read for more information about the UDNI.
- The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension This article in Journal of the American Medical Association (JAMA) describing the formation and the goals of the UDN.
The UDN has been approved for phase II
The NIH Common Fund has approved the Undiagnosed Diseases Network for a second phase of support from FY18-FY22. In phase II of the program, the UDN will continue accepting participants with unsolved medical cases as well as study the components required for network sustainability once Common Fund support ends. Pending the availability of funds, the program expects to publish funding opportunity announcements in summer 2017 to fund the second phase of the network. Components of phase II are expected to include: a Coordinating Center, 8-10 Clinical Sites, and 3-6 Core Laboratories.