Washington University School of Medicine in St. Louis has launched the Center for Rare, Undiagnosed and Genetic Diseases, supported by an $8.5 million grant from Children’s Discovery Institute (CDI), a partnership with St. Louis Children’s Hospital, St. Louis Children’s Hospital Foundation and WashU Medicine. The new center brings together WashU Medicine researchers and the rare disease patient community, creating a collaborative network to drive innovative research and accelerate drug discovery.
“The St. Louis area has a robust rare disease patient population,” said Patricia Dickson, MD, the Centennial Professor of Pediatrics and a professor of genetics at WashU Medicine and the new center’s director. “WashU Medicine has the resources that enable cutting-edge rare disease research. But the two have not connected well. The patient-facing center fosters that connection, helping to deliver more diagnoses and create therapies for rare disease patients.”
Patients in Missouri and surrounding states with unexplained symptoms who have exhausted their community’s diagnostic resources often turn to WashU Medicine for answers. With support from the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN) Diagnostic Center of Excellence helps patients who, despite extensive medical evaluation, remain undiagnosed. WashU Medicine joined the network in 2018 and is among 15 clinical sites nationwide with the resources to help solve the toughest cases. Washington University and BJC Healthcare are also a founding center of excellence site for the National Organization for Rare Disorders. Such sites are dedicated to advancing care for patients with rare diseases.
In-house genetic diagnostic testing recently launched by the Clinical Genomics Laboratory, a collaboration between the Departments of Pathology & Immunology and Genetics, can rapidly identify genetic variations that may be linked to a patient’s medical condition. Through WashU Medicine’s model organism screening center, co-led by Stephen Pak, PhD, a professor of pediatrics, and Tim Schedl, PhD, a professor of genetics, researchers can then insert those genetic variations into model organisms in the lab to probe their functions and observe whether they lead to conditions similar to those in the patients. The new rare disease center will provide additional funding to support UDN’s expansion of its diagnostic capabilities, helping even more patients whose cases remain unsolved.