Undiagnosed Diseases Network Expands to Include University of Utah


(Photo by: D. Goodwin | The Daily Utah Chronicle).

By Jacqueline Mumford, Managing Editor

The University of Utah has been designated as a member of the Undiagnosed Diseases Network (UDN), a research study supported by the National Institutes of Health (NIH).

This year, the network expanded from six academic clinical sites to eleven. The U joined the ranks with four other clinical sites from across the United States, including the Children’s Hospital of Philadelphia, the University of Pennsylvania and Washington University in St. Louis, among others. This designation comes with a $3 million grant disbursed over the next four years in order to investigate new research strategies and technologies.

The two main goals of the UDN, according to its website, are “to provide answers for patients and families affected by mysterious conditions, and to learn more about rare and common diseases.” These goals are achieved through improving basic and clinical research, which in turn increases the rate of diagnoses and their accuracy in cases of mysterious diseases.

The U has been working in this field specifically since 2016, when the pilot program focusing on children with undiagnosed diseases, the Penelope Program, was established. This program brought clinical doctors and researchers together to tackle such medical mysteries from new angles. With the UDN grant and support, the clinic will expand coverage to include adults as well as patients throughout the Mountain West region.

Dr. Lorenzo Botto, MD, a professor of pediatrics at the University of Utah School of Medicine and principal investigator for the clinical site at the U, submitted the application for the UDN on behalf of the U to the NIH in order to receive the grant and acceptance into the network.

“The funding will be used to provide an infrastructure for the multidisciplinary evaluation of patients (children and adults) with an undiagnosed disease,” said Dr. Nicola Longo, a professor of pediatrics and adjunct professor of pathology at the University of Utah School of Medicine. “The aims of the project are: to recruit, evaluate, and follow patients of all ages with undiagnosed diseases across the Intermountain West and to partner with the UDN to create innovative bioinformatics approaches to patient diagnostics.”

In order to be seen by the clinical sites within the UDN, patients must go through an application process. The UDN requires a series of questions to be answered, ranging from travel limitations to demographic information, as well as a study recommendation letter from a licensed health care provider for an online application. These patient applications are reviewed by the various UDN clinical sites, who may ask for additional information, like pathology slides and reports or MRI and X-Ray images. The entire decision process to accept a patient to the clinical site can range from a little over two months to over four.

This new funding will allow clinical sites like the one at the U to accept more patients, faster than before.

“Being part of the UDN will increase the number of patients that can be evaluated by the program and the possibility of obtaining genetic testing and other special studies leading to a specific diagnosis,” Dr. Longo said.

For more information about the UDN and its application processes, visit https://undiagnosed.hms.harvard.edu/about-us/.

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