By Pooja Belur
On July 1, the National Institutes of Health (NIH) awarded Stanford a $7.2-million grant as part of a continued effort to diagnose mystery diseases. The University will serve as one of several new clinical sites in the Undiagnosed Diseases Network (UDN), a program which, according to its website, aims to find diagnoses and treatments for patients who are undiagnosed despite having received prior evaluations.
“Most of the patients [in the program] have been seen by multiple subspecialists in multiple tertiary care centers over multiple years,” said Matthew Wheeler, medical director for the grant at Stanford Hospital & Clinics. “Our goal is simply to serve as many of these patients as possible.”
The UDN is an extension of a current trans-NIH initiative known as the Undiagnosed Diseases Program (UDP). Since its establishment in May 2008, the UDP has successfully diagnosed 100 of its 600 patients, identified two new diseases and found links between 15 genes and diseases. Its success at the NIH Clinical Center as well as its overwhelming inflow of applications prompted the NIH to expand into a nationwide network.
Stanford is one of six new clinical sites that have been set up across the nation. The network has a coordinating center to assist with data sharing and integration across the sites and also has several core laboratories, which facilitate specialized clinical and laboratory tests.
Currently, the Stanford clinical site has three principal investigators: Euan Ashley, an associate professor of medicine and genetics; Paul Fisher, a service chief of pediatric neurology at Lucile Packard Children’s Hospital; and Jon Bernstein, the medical director of the grant for LPCH and an assistant professor of pediatric medical genetics at the School of Medicine.
LPCH, the School of Medicine and Stanford Hospital & Clinics share the Stanford grant in order to facilitate both pediatric and adult patient care. Once brought in, each patient will receive evaluations by interdisciplinary teams of specialists within a one-week timeframe.
According to Ashley, Stanford offers incoming patients an array of unique resources and technologies.
“In regards to the technology we use, Stanford is very strong at genomics, and the use of genome sequencing in clinical medicine is an area that we have focused on over the last several years,” Ashley said.
Additionally, Stanford also boasts a wide network of experts across different fields of medicine. One of the key ideas in Stanford’s grant application included matching patients’ records to specialists from every discipline.
“We pitched the idea of bringing in experts from all around the world to help with these undiagnosed [patients],” Ashley said. “It is unlikely that local hospitals will have these experts, and even in our network we may not have an expert, but we have the ability to find someone in the world with the expertise.”
According to Anastasia Wise, director of the NIH National Human Genome Research Institutes Division of Genomic Medicine, the UDN has two overarching goals that it hopes to accomplish over the course of four years. Ultimately, it hopes to improve the diagnosis and care of patients with undiagnosed disorders. However, the network also aims to facilitate research into the etiology of undiagnosed patients in order to collect and share patient data with the network and the scientific community at large.
“We want to help create a collaborative and communicative community between clinicians and researchers in multiple different fields of study to be able to look at new and rare diseases,” Wise said.
The Stanford grant supports comprehensive evaluations of 10 patients during the first year, 25 patients in the second year and 50 patients for the following two years. The network is currently waiting for Institutional Review Board (IRB) approval to begin seeing patients and expects to have its first appointments in November.
Contact Pooja Belur at pooja_belur ‘at’ yahoo ‘dot’ com.