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.
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 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.
Help the UDN find a diagnosis!
One of the ways the UDN can obtain a diagnosis for a participant is by finding other individuals with the same genetic change. While a single participant may have several potential changes in their genetic code that in theory could result in their condition, finding others with the same change and symptoms is strong evidence of a causal link between the mutation and the persons’ symptoms. (Note that sharing of this type of information is not a requirement of participation in the UDN.)