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 centre 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, the Centennial Professor of Pediatrics, a Professor of Genetics at WashU Medicine and the new centre’s Director. “WashU Medicine has the resources that enable cutting-edge rare disease research. But the two have not connected well. The patient-facing centre 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 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 centre of excellence site for the National Organization for Rare Disorders. Such sites are dedicated to advancing care for patients with rare disease. 

Rare disease clinical trials

Beyond diagnosis, the centre also aims to help patients with rare diseases for which there are no treatments. Established resources in WashU Medicine’s clinical research units are partnering with the centre to help investigators pursue clinical trials for rare disease.  

Educational workshops will train researchers in clinical research design, reducing barriers to bringing therapies for rare disease to the clinic. 

“The centre addresses our gap in translational studies for rare disease,” added Dickson. “Rare disease clinical trials are very different from larger, more-common disease clinical trials. Small patient populations, young participants and invasive therapies are just some of the hurdles that researchers may have to address when designing studies. Creating educational opportunities and a robust infrastructure for translational studies will help researchers overcome such challenges.” 

Rare disease clinical trials depend on patients and researchers collaborating. By creating opportunities for WashU Medicine’s rare disease experts and affected families to come together, the centre fosters an interconnected ecosystem to help improve genetic diagnostic testing, implement genetic newborn screening, support clinical trials for rare disease therapies and bring new treatments into the clinic.

Diana Spencer, Senior Digital Content Editor, DDW