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



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CRÊME PHILADELPHIA, September 24, 2018 / PRNewswire / – The National Institutes of Health (NIH) has named the Children's Hospital of Philadelphia cream (CHOP) and the hospital of University of Pennsylvania as one of the newest sites in its network of undiagnosed diseases (UDN), assigning both institutions $ 2.5 million in research grants. Kathleen Sullivan, MD, PhD, Head of the Division of Allergy and Immunology at CHOP and Reed Pyeritz, MD, PhD, Professor of Medicine William Smilow and Professor of Genetics at Penn, will act as co-directors for the common CHOP /Penn site.

Elijah Patino is the first person to have been diagnosed with autoimmune disease associated with CD40LG duplication.

"The inclusion in the network is very interesting," said Dr. Sullivan. "The grant awarded to CHOP and Penn will allow us to study diseases that have not yet been discovered. We will be able to take what we learn here and help patients who otherwise would have lived all their lives with a mysterious illness. "

The UDN research study was developed to improve and speed up the diagnosis of rare and undiagnosed diseases. The network will expand from seven to twelve clinical sites, increasing the number of people accessing a UDN clinical site.

"Once again, Penn and CHOP have teamed up to bring together the best of clinical and research expertise from both institutions, "says Dr. Pyeritz." This new program will allow us to study as much as possible the cause of diseases previously impenetrable in children and adults. In addition to providing a much needed clinical perspective, we expect to make a significant profit from research through our activities. "

Children's Hospital Philadelphia cream and the hospital of the University of Pennsylvania join four other clinical sites that will constitute Phase II of the UDN, including University of Washington, University of Miami, University of Washington in Saint Louis and University of Utah. Since the introduction of Phase I in 2015, the network has already diagnosed more than 200 cases that have long been mysteries to the medical community.

About the Children's Hospital of Philadelphia cream: Children's Hospital Philadelphia cream was founded in 1855 as the country's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric health professionals, and launching major research initiatives, Children's Hospital has fostered many new discoveries for the benefit of children. of the whole world. Its pediatric research program is among the most important in the country. In addition, its unique family-centered health care and public service programs have enabled the 546-bed hospital to be recognized as one of the leading advocates for children and adolescents. For more information, visit https://www.chop.edu

Contact: Camillia Travia
Children's Hospital Philadelphia cream
(267) 426-6251 (office)
(425) 492-5007 (cell)
[email protected]

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