The target subjects for this study are individuals with undiagnosed diseases. Baylor College of Medicine is participating in this NIH-sponsored, multi-center study, called the Undiagnosed Diseases Network (UDN), which is an expansion on a similar study already established at the NIH. The goals of the UDN are to: (1) provide answers for individuals with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible.
Patients interested in participating in the study need to apply via a web-based portal for the Undiagnosed Diseases Network. Medical records from these patients will be gathered and reviewed to determine if they will be accepted into the study. Subjects accepted into the study will come to Baylor for up to a week-long stay for clinical evaluation. The testing performed on subjects involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. For more information, see Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network.