National Institutes of Health Names CHOP, Penn an Undiagnosed Diseases Network Site

The National Institutes of Health (NIH) has named Children’s Hospital of Philadelphia (CHOP) and the Hospital of the University of Pennsylvania as one of the newest sites of its Undiagnosed Diseases Network (UDN), awarding the two institutions $2.5 million in research grants. Kathleen Sullivan, MD, PhD, Chief of the Division of Allergy and Immunology at CHOP and Reed Pyeritz, MD, PhD, the William Smilow Professor of Medicine and Professor of Genetics at Penn, will act as Co-Directors for the joint CHOP/Penn site.

Elijah Patino is the first person to ever be diagnosed with CD40LG duplication-associated autoimmune disease. “Inclusion into the network is very exciting,” says Dr. Sullivan. “The grant money awarded to CHOP and Penn will allow us to investigate diseases that have not yet been discovered. We’ll be able to take what we learn here and help patients who otherwise may have lived their entire lives with a mystery illness.”

The UDN research study was developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The network will expand from seven to 12 clinical sites, increasing the number of people with access to a UDN clinical site.

“Once again, Penn and CHOP are partnering to bring together the best in clinical and research expertise from both institutions,” says Dr. Pyeritz. “This new program will allow us to investigate as thoroughly as possible the cause of previously inscrutable diseases, in both children and adults. In addition to providing much needed clinical perspective, we anticipate deriving considerable research benefit through our activities.”

Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania join four other clinical sites that will make up Phase II of the UDN, including University of Washington, University of Miami, Washington University in St. Louis and University of Utah. Since Phase I was introduced in 2015, the network has already diagnosed more than 200 cases that had long been mysteries to the medical community.