Quantum Leap: New symposium to spread rare disease awareness

On leap day, Feb. 29, the Rare Disease Symposium will welcome researchers and patient advocates from across the state at Segra Park in downtown Columbia, from 9:30 a.m. to 2 p.m., with a virtual option available for those who can’t attend in person. Presenters will offer  the latest research on rare diseases and explore the unmet needs of the rare disease community in South Carolina. The symposium is being organized by the state’s Rare Disease Advisory Council (RDAC) as an important first step in making a quantum leap forward in rare disease research and patient care.

RDACs are an initiative of the National Organization for Rare Disorders and intended to make state governments more aware of the needs of people with rare diseases so that they can address barriers to their treatment and care.

“The mission of the council is to provide resources for the rare disease community and to advise the state about their needs. We are tying the symposium into Rare Disease Day to reach the community and engage in the conversation in order to achieve that mission.” -- Dr. Patrick Flume

The RDAC’s diverse statewide membership, including members from research universities, state agencies, health care organizations and insurers, ensures that the right players have been brought together to meet the needs of the rare disease community. The state’s RDAC is chaired by the Medical University of South Carolina’s Patrick Flume, M.D., co-director of the South Carolina Clinical & Translational Research Institute (SCTR), which is assisting the council with hosting the symposium.

“The mission of the council is to provide resources for the rare disease community and to advise the state about their needs. We are tying the symposium into Rare Disease Day to reach the community and engage in the conversation in order to achieve that mission,” said Flume.

The symposium will be the first community event sponsored by the S.C. RDAC and is intended to provide a forum to discuss the continuing needs and barriers faced by patients and their caregivers as well as recent research findings.

The first session will include presentations by researchers, including those who will discuss the latest genetic discoveries and the importance of newborn screenings, with an opportunity for questions from the audience.

One such presenter, Daniel Judge, M.D., an RDAC member, is a cardiovascular genetics specialist at MUSC. He is pleased to see that innovations in genetics are paving the way for new therapies for patients with rare diseases. 

“The pace of progress in this area has been amazing. Thanks to improvements in both cost and feasibility of gene-based treatments, several are now FDA approved, with many more in planning stages or clinical trials,” said Judge.

The second session will offer presentations by rare disease advocates, both families and caregivers as well as  representatives of rare disease organizations, focused on challenges confronting the rare disease community and actions necessary to overcome them. Information on and access to the council’s Rare Disease Needs Assessment, a confidential electronic survey designed to capture the experiences and needs of South Carolinians living with at least one rare disease, will also be available. Results will be used to develop and prioritize the S.C. RDAC’s future efforts and initiatives.  

This symposium will be free and open to the public, and anyone with an interest in rare diseases is invited to participate. It will be a hybrid event with livestreaming available. To register for either in-person or virtual attendance, please visit rarediseasesc.org or contact Kendall Spillman at spillman@musc.edu.