Baylor College of Medicine and Texas Children’s Hospital will join forces as part of a new nation-wide network of doctors and scientists working to address prolonged undiagnosed medical conditions, as part of a newly awarded $7.3 million, four-year grant from the National Institutes of Health, one of six awarded recently as part of the NIH’s Undiagnosed Diseases Network.
The medical centers selected by the NIH will enroll in a project that starts with clinical evaluation and scientific investigation of patients with prolonged undiagnosed diseases, in order to contribute medical expertise to the NIH Undiagnosed Network (UDN). Each of the six medical centers will receive a four-year grant of $7.2 million, and the network, tests, and operating procedures will all launch during the program’s first year.
The network’s design already exists and is modeled after an NIH pilot program that has enrolled people with intractable medical conditions from nearly every state and seven foreign countries, which was developed at the NIH Clinical Center in Bethesda, Maryland. Within six years, the center evaluated hundreds of patients and diagnosed them. For rare conditions, a genomic approach was utilized.
Newly developed methods for genome sequencing now provides us with amazingly powerful approaches for deciphering the causes of rare undiagnosed conditions,” said the director of the National Human Genome Research Institute, Eric D. Green, M.D., Ph.D. “Along with robust clinical evaluations, genomics will play a central role in the UDN’s mission.” The institutes will recruit patients so that by the summer of 2017, the rate of admissions at each new clinical site will be about 50 patients per year.
The undiagnosed conditions are the ones that are not identified despite the extensive clinical investigation performed by skilled physicians, which include diseases that are rarely seen, previously undescribed, and are rare forms of common diseases. The program is expected to fill the gaps of unmet demand for the diagnoses. The main goal is to address inquiries from physicians and patients throughout the country who require these services, and create a 21st century model for diagnosis and treatment in this genomic and information-intensive era.
“The NIH Undiagnosed Diseases Network has the potential to transform medicine and serve as a catalyst for new discoveries,” explained the director of the NIH Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI), James M. Anderson, M.D., Ph.D. “It is an ideal NIH Common Fund program—the only one focused on diagnoses of rare disorders.”
“The UDN will look at diseases across all clinical specialties using new tools and methods of analysis for the identification of new diseases,” said Anastasia L. Wise, Ph.D., a program director in NHGRI’s Division of Genomic Medicine and co-coordinator of the UDN working group that oversees the development and implementation of the UDN. “The network will facilitate collaboration and shared use of genomic tools among the sites.”
The lead investigator at BCM is Brendan H.L. Lee, M.D., Ph.D.. The other clinical sites are the Boston Children’s Hospital, Brigham and Women’s Hospital, and Massachusetts General Hospital, in Boston; the Duke University, Durham, in North Carolina; Stanford University, in California; University of California, in Los Angeles; and Vanderbilt University Medical Center, in Nashville.
The inclusion of these six new clinical sites is expected not only to draw upon the unique expertise of new clinical research groups, but also to cultivate opportunities for collaboration among a larger group of expert laboratory and clinical investigators.
“This type of program can invigorate a medical center anywhere in the country and in the world,” said William A. Gahl, M.D., Ph.D, the clinical director at the National Human Genome Research Institute (NHGRI), director of the NIH-based Undiagnosed Diseases Program (UDP) and co-coordinator of the UDN working group. “Often, patients have a lot of physical complaints and no objective diagnoses. Our goal is to use the latest tools to make a diagnosis that spans the clinical, pathological and biochemical spectrum to uncover the basic genetic defect.”