Misdiagnosis, treatment inequality and isolation are barriers to individuals and families seeking cures
The Ohio Rare Action Network, an affiliate of the National Organization of Rare Disorders, with the Connor B. Judge Foundation and The Sumaira Foundation are bringing Ohio Rare Disease Day to Cleveland on Tuesday, Feb. 28.
Local advocates, community members and those affected by rare diseases are working with the medical research communities from Case Western Reserve University, which is hosting the event with Harrington Discovery Institute at University Hospitals (UH), Cleveland Clinic and The MetroHealth System, to support efforts to cure rare diseases.
The event, which can be attended virtually or in-person, will include networking and an informational program, which includes a series of short presentations addressing the challenges to diagnose and treat rare diseases, and the lack of approved treatment options. The program will also feature patient perspectives and highlight advocacy and legislative efforts.
Rare Disease Day, held annually on Feb. 28, is recognized worldwide to bring awareness to rare diseases and the need for improved access to treatment and medical representation. An estimated 95% of rare diseases have no U.S. Food and Drug Administration-approved treatment.
There are an estimated 300 million people living with a rare disease worldwide. There are more than 7,000 types of rare diseases; 72% are genetic, and 70% of them start in childhood.
“By working together, the Cleveland research institutions can make a difference for these devastating, rare diseases,” said Mitchell Drumm, professor of genetics and genome sciences at the CWRU School of Medicine and director of the university’s Research Institute for Children’s Health. “The Research Institute for Children’s Health connects local researchers and encourages them to work together on therapeutic approaches so advances can be made more rapidly and efficiently. We are hosting this year’s event with hopes of bringing awareness to the community, and for this work to be successful, it requires support from the region’s research and healthcare institutions, as well as the community.”
For example, the Research Institute for Children’s Health was launched from a cystic fibrosis program involving researchers from CWRU, UH and Cleveland Clinic. That effort is considered a model for tackling other diseases.
“Advancing breakthroughs in rare diseases requires bold, new approaches that can overcome scientific challenges and create new medicines,” said Jonathan S. Stamler, president of the Harrington Discovery Institute at UH, the Robert S. and Sylvia K. Reitman Family Foundation Distinguished Professor of Cardiovascular Innovation and professor of medicine and biochemistry at UH and the Case Western Reserve School of Medicine. “Harrington Discovery Institute’s global partnership with the University of Oxford in launching The Oxford-Harrington Rare Disease Centre represents a commitment to patients first and a tremendous opportunity to improve the health and outcomes of those living with a rare disease. We are united in our mission to cure rare disease here in Cleveland and across the globe.”
The 2023 Ohio Rare Disease Day event will be held Tuesday, Feb. 28, from 8:30 a.m. to 1 p.m. in the Tinkham Veale University Center ballroom. Learn more about the event and register through the Ohio Rare Action Network website.
For more information, contact Bill Lubinger at william.lubinger@case.edu.
This article was originally published Feb. 22, 2023.