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The Genomics Landscape

Undiagnosed Diseases Network: Solving Medical Mysteries

NHGRI Director Eric Green, M.D., Ph.D.
Eric Green
By Eric D. Green, M.D., Ph.D.
Director, National Human Genome Research Institute
August 5, 2014
The NIH Intramural Research Program offers an environment that fosters innovation and high-risk, high-reward research, making it a home to myriad unique programs. An outstanding example of this is the Undiagnosed Diseases Program (UDP), launched in 2008 as a partnership among NHGRI, the NIH Clinical Center, and the Office of Rare Diseases Research (now part of the National Center for Advancing Translational Sciences). The UDP's goals are to provide answers to patients with mysterious conditions that have long eluded diagnosis and to advance medical knowledge about rare and common diseases. To date, the UDP has accepted ~750 patients. In addition to robust clinical evaluations, many of these patients received cutting-edge genomic analyses, such as scans for single-nucleotide polymorphisms and whole-exome sequencing. The multidisciplinary clinical and research team has diagnosed ~100 patients, discovered 2 previously unknown diseases, and identified 50 genes not previously associated with any other human disease.  

Researcher, patient and undiagnosed people illustrated

The success of the UDP was recognized by the collective NIH leadership in 2012, when it decided that the NIH Common Fund would provide over $120 million over five years to build upon the success of the NIH UDP to create a network of medical research centers around the country, the Undiagnosed Diseases Network (UDN). The UDN's focus will be to continue studying patients with undiagnosed conditions, while promoting the use of genomic approaches for clinical diagnostics and engaging basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary genomic approaches is also an important component of the UDN. NHGRI Extramural Research Program staff members are playing a key role in leading this new NIH Common Fund program.
Since its launch, the UDN has released five Funding Opportunity Announcements (FOAs). The Coordinating Center for the UDN was awarded to Harvard Medical School (Principal Investigator Isaac Kohane, M.D., Ph.D.). Funds were also provided to support a number of gene function studies that are investigating rare and new diseases. Most recently, six awards were made to medical centers across the country (see map below) that will serve with the NIH UDP as the seven clinical sites for the UDN (see for details). The Coordinating Center has already begun laying the groundwork for the seven UDN clinical sites to begin accepting patients.
New components will soon join the existing parts of the network. Specifically, facilities for genome sequencing and pilot projects for pursuing gene function studies will be funded before the end of this fiscal year, and another core laboratory funding announcement is forthcoming. We are well on our way to seeing this complex network of resources and expertise come to fruition.
View high-resolution
Map showing the newly awarded UDN clinical sites and Coordinating Center.
The NIH UDP - and now the UDN - are exceptional examples of genomic medicine in action. Right here on the NIH campus, and now at six other medical centers across the U.S., we have the ability to help children and adults (and their families) who have endured long diagnostic odysseys, many of whom had lost hope for understanding their disease before learning about these unique programs. Not only will the UDN provide tangible medical benefits, but its centers will develop common protocols, operating guidelines, and practices that can be shared broadly, along with systems for data collection and common approaches for patient selection, evaluation and diagnosis. The era of genomic medicine has arrived!

For more information on the UDN, see

The Genomics Landscape is a monthly email message that aims to disseminate information directly from the NHGRI Director to the broader genomics community and other interested recipients. Each month, Dr. Green will endeavor to highlight two to four topics, typically featuring one in greater detail. To receive The Genomics Landscape each month sign up via the following ListServ: The Genomics Landscape Listserv. To suggest topics for future messages, please send an e-mail to: NHGRILANDSCAPE@MAIL.NIH.GOV
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Last Updated: August 12, 2014
Posted: August 4, 2008