With advances in genomic sequencing and medicine, it is now possible to examine patients with rare genetic diseases at a level that allows physicians and scientists to find the “needle in a haystack”. Often times, one small change (mutation) in a genetic sequence can cause an individual to develop disease symptoms. To increase the capacity for this type of research, an Undiagnosed Diseases Network (UDN) has been established across the country to diagnose both rare and new diseases. Furthermore, through the support of mechanistic studies, the Network hopes to aid in management strategies for the patients. This program is advancing laboratory and clinical research, building upon the experience and expertise of the NIH Intramural Undiagnosed Diseases Program (UDP) and similar programs, by enhanced coordination and collaboration among laboratory and clinical researchers across multiple centers. The Network also benefits from having the capacity to share data and approaches widely throughout the scientific community.
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.