Rare Disease Q&A Part 1

The Rare Disease Symposium, to be held February 29 at Segra Park in downtown Columbia from 9:30 am to 2:00 pm (with a virtual option as well), is the first event sponsored by South Carolina’s Rare Disease Advisory Council (RDAC). The RDAC is chaired by Patrick Flume, M.D., a pulmonologist at the Medical University of South Carolina and co-director of the South Carolina Clinical & Translational Research Institute. Below, he answers a few questions about the role of South Carolina’s RDAC and its aspirations for the Symposium.

Q: What is the purpose of South Carolina’s Rare Disease Advisory Council?

A: This is a statewide group, mandated by the state legislature and charged with trying to identify the needs of the rare disease community so that we can inform the General Assembly about those needs and potentially offer up some solutions. The council is representative of multiple stakeholders, including researchers across the state, healthcare organizations, insurers, and government agencies related to health.

Q: What are some early accomplishments of the RDAC?

A: We’ve established the committee and have recently begun work on enhancing our website. When it is fully built out, we hope it will be a resource for the rare disease community. We’ve also created a needs assessment survey to learn more about the needs of the rare disease community. Finally, we are planning this Rare Disease Symposium to coincide with Rare Disease Day. The Symposium will feature researchers in the rare disease space as well as advocates from across the state and is intended to be of benefit to both the scientific and rare disease community. We aim to engage members of the rare disease community in a conversation about their needs.

Q: Why is it important to encourage two-way communication between researchers and the rare disease community through events like the Rare Disease Symposium?

A: For the rare disease community, I think that events like this provide the opportunity to learn about the latest research and to have an impact on the planning of future studies. From a researcher’s perspective, we need community engagement. We might think we know the most relevant questions, but we really need to get the perspectives of people who live with these rare diseases. What are the hurdles that they're experiencing, but also are they willing to participate in research? Hearing these perspectives can help us do a better job of designing studies.

The Rare Disease Symposium is free and open to the public. Those interested in attending (either virtually or in-person) can register by visiting RarediseaseSC.org. A link to the needs assessment survey can also be found on the website.