It is estimated that approximately 25 to 30 million Americans suffer from a rare disorder resulting in individuals going for long periods of time without a diagnosis. To make progress in uncovering, understanding, and treating these disorders, NIH established an intramural research program on undiagnosed diseases known as the Undiagnosed Diseases Program (UDP).
To further help people and skilled physicians deal with rare diseases, the Common Fund’s Undiagnosed Diseases Network (UDN) www.genome.gov/27550959 aims to provide data to further help with rare diseases that are unfamiliar to even skilled physicians. It was just announced that UDN is now accepting patient applications through the online portal referred to as the “UDN Gateway.”
“Diagnosis at the edges of our knowledge calls for clinicians to be data driven, cross disciplinary, and collaborative in unprecedented ways,” said Jeffrey S. Flier, Dean of Harvard Medical School http://hms.harvard.edu.
“Often people with undiagnosed diseases go from place to place seeking answers because very often information and expertise are fragmented. The UDN Gateway brings this valuable information and expertise together,” according to Rachel Ramoni, Executive Director of the UDN Coordinating Center and one of the Principal Investigators.
The UDN Gateway was developed by the UDN Coordinating Center based in the Department of Biomedical Informatics at HMS in collaboration with investigators at Boston Children’s Hospital.
In addition to processing applications, the Gateway stores knowledge for everything that is known about patients with undiagnosed diseases and their conditions through week-long UDN clinical evaluations and genetic testing. The information aggregated in the Gateway is available to all researchers and clinicians in the network so that patients are given every opportunity for a diagnosis.
There are seven clinical sites, two DNA sequencing facilities and the coordinating center. The clinical sites are located at the NIH Clinical Center, Baylor College of Medicine, Duke Medical Center with Columbia University, HMS teaching hospitals, Stanford Medical Center, University of California at Los Angeles Medical Center, and Vanderbilt University Medical Center.
The two DNA sequencing facilities are located at the Baylor College of Medicine and at the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama which is partnering with Illumina of San Diego.
For more information on the UDN and to apply for funding through the UDN Gateway, go to http://undiagnosed.hms.harvard.edu.