Washington University School of Medicine in St. Louis has initiated the Center for Rare, Undiagnosed, and Genetic Diseases, backed by an $8.5 million grant from Children’s Discovery Institute (CDI), in collaboration with St. Louis Children’s Hospital, St. Louis Children’s Hospital Foundation, and WashU Medicine. This new center unites researchers from WashU Medicine with the rare disease patient community, forming a cooperative network aimed at promoting groundbreaking research and speeding up drug development.
“The St. Louis region boasts a diverse rare disease patient demographic,” stated Patricia Dickson, MD, the Centennial Professor of Pediatrics and a professor of genetics at WashU Medicine, who will oversee the new center. “WashU Medicine possesses the assets necessary for pioneering rare disease research. However, these resources and the patient community have not collaborated closely. The patient-centered center cultivates that interaction, enabling more diagnoses and the development of therapies for those affected by rare diseases.”
Individuals in Missouri and nearby states with undiagnosed symptoms who have depleted their community’s diagnostic options frequently seek solutions from WashU Medicine. Supported by the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN) Diagnostic Center of Excellence assists patients who, despite thorough medical assessments, remain undiagnosed. WashU Medicine joined the consortium in 2018 and is one of 15 clinical locations nationwide equipped to tackle the most challenging cases. Washington University, alongside BJC Healthcare, is also a founding center of excellence for the National Organization for Rare Disorders. These centers are dedicated to enhancing care for patients with rare conditions.
The Clinical Genomics Laboratory, a collaboration between the Departments of Pathology & Immunology and Genetics, has recently launched in-house genetic diagnostic testing to quickly detect genetic alterations that may correlate with a patient’s health issue. Utilizing WashU Medicine’s model organism screening center, jointly directed by Stephen Pak, PhD, a professor of pediatrics, and Tim Schedl, PhD, a professor of genetics, researchers can incorporate these genetic alterations into laboratory model organisms to investigate their functionalities and observe if they result in conditions akin to those found in the patients. The newly established rare disease center will allocate further funding to assist UDN in broadening its diagnostic capabilities, benefiting even more patients whose situations remain unresolved.
Besides diagnosis, the center aims to assist patients with rare diseases that lack treatment options. Existing resources within WashU Medicine’s clinical research units are collaborating with the center to help researchers explore clinical trials for rare diseases. Educational workshops will provide training for researchers in designing clinical research, helping to minimize barriers to advancing therapies for rare diseases to clinical settings.
“The center addresses our deficiencies in translational research regarding rare diseases,” remarked Dickson. “Clinical trials for rare diseases are markedly distinct from those for larger, more prevalent diseases. Limited patient populations, young participants, and invasive treatment options are only a few of the challenges researchers face when designing studies. Building educational platforms and a robust framework for translational studies will empower researchers to navigate these obstacles.”
Rare disease clinical trials rely on the collaboration between patients and researchers. By facilitating opportunities for WashU Medicine’s experts in rare diseases and affected families to convene, the center promotes an interconnected ecosystem aimed at enhancing genetic diagnostic testing, implementing genetic screening at birth, supporting clinical trials for rare disease therapies, and introducing new treatments in clinical practice.
The new center enhances an existing collaborative dynamic between WashU Medicine researchers and family-founded advocacy organizations. Such organizations provide vital preliminary funding that allows WashU Medicine researchers to attract additional support from larger funding entities to pursue and develop diagnostics or therapeutics, Dickson noted. Moreover, they enable researchers to grasp patient needs to adjust research objectives accordingly. More recently, these partnerships have facilitated the establishment of research clinics, which gather data from rare disease patients who travel from all corners of the globe to seek assistance from WashU Medicine’s specialists. The center will finance such clinics—often lacking stable funding—to aid in the crucial data collection needed for improving understanding of rare conditions and ultimately developing treatments.
The center also supports the annual Rare Disease Day Symposium in February. Now in its third year, the event attracts over 200 participants, including researchers, patient and parent advocates, as well as representatives from companies focused on rare disease therapies, to network and learn about advances in rare disease research and medical innovations occurring at WashU.
“This new center fortifies connections across our extensive rare disease research and clinical communities while solidifying partnerships with patients to enhance diagnosis and treatment options for rare, undiagnosed, and genetic diseases,” stated Gary Silverman, MD, PhD, the Harriet B. Spoehrer Professor of Pediatrics, chair of the Department of Pediatrics, and executive director of CDI. “It embodies a community united in a common goal to support patients with often neglected conditions.”
About Washington University School of Medicine
WashU Medicine stands as a global pioneer in academic medicine, encompassing biomedical research, patient care, and educational programs with a faculty of 2,900 individuals. Its research funding portfolio from the National Institutes of Health (NIH) ranks second among U.S. medical schools, having increased by 56% over the past seven years. In conjunction with its institutional investment, WashU Medicine dedicates over $1 billion annually to the innovation and training of both basic and clinical research. Its faculty practice is typically ranked among the top five nationwide, with more than 1,900 faculty physicians operating at 130 locations and also serving as the medical staff for Barnes-Jewish and St. Louis Children’s hospitals under the umbrella of BJC HealthCare. WashU Medicine has a distinguished legacy in MD/PhD training, having recently allocated $100 million towards scholarships and curriculum enhancement for its medical students, and hosts exceptional training programs across all medical subspecialties as well as in physical therapy, occupational therapy, and audiology and communication sciences.
Originally published on the WashU Medicine website
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