Events

SC RDAC Meetings

October 2025

The RDAC quarterly meeting was held on October 3 at 9:00 a.m. Mark Sweatman, MUSC Vice President for External Affairs, facilitated a discussion about the RDAC’s role in making recommendations to the State. The council discussed details related to the February Rare Disease Symposium and assigned a working group. Dr. Neena Champaigne shared key takeaways from a recent event, including identifying potential statewide collaborators. The council discussed next steps related to SC rare disease prevalence data.

October 3, 2025 Minutes (PDF)

July 2025

The RDAC quarterly meeting was held on July 11 at 9:00 a.m. Dr. Kit Simpson shared a pilot study estimating rare disease prevalence in South Carolina using multiple datasets and a modified Peterson capture-recapture method. Administrative updates included upcoming meetings, council member term limits and succession planning, and early preparations for a February symposium.

July 11, 2025 Minutes (PDF)

April 2025

The RDAC quarterly meeting was held on April 11 at 9:00 a.m. Yvonne Donald, Deputy Director of James R. Clark Memorial Sickle Cell Foundation, was introduced to the council to serve as representation of rare disease organization and Cara O’Neill, founder of Cure Sanfillipo Foundation, was introduced to the council to serve as representation of a caregiver of a person with rare disease. The council discussed results of the NORD report card and potential legislative recommendations in inclusion in the annual report to the Governor's Office. Meeting minutes can be accessed below.

April 11, 2025 Minutes (PDF)

January 2025

The RDAC January Teams meeting was held on January 10 at 9:00 a.m. Bridget Downing was introduced as the council’s new patient representation and Dr. Steve Skinner was introduced as the council's new representation for Greenwood Genetics. Plans for the inaugural Rare Disease Symposium were discussed and it will be held on Friday, February 28, 2025 at Segra Park in Columbia, SC. The meeting minutes can be accessed below.

January 10, 2025 Minutes (PDF)

2025 Rare Disease Symposium

Friday, February 28, 2025 from 10:00 a.m. to 2:00 p.m. 

Location: Segra Park Club Lounge 1640 Freed Street, Columbia, SC 29201 

On Rare Disease Day, the SC RDAC held its second annual Rare Disease Symposium. The symposium was free and open to the public, offering the opportunity to learn about innovative and impactful research going on across the state, hear personal stories from those affected by rare disease and discover some of the important advocacy work that's grown out of both necessity and hope. View Symposium slide deck. 

Thank you to everyone who was able to attend in person and virtually!

SC RDAC Meetings

October 2024

The RDAC quarterly meeting was held virtually on October 25th, 2024. Tanya Spells, Newborn Screening Followup Director with the South Carolina Department of Public Health, presented to the council about the Newborn Screening System (NBS) and how it is utilized to evaluate and diagnose genetic disorders in newborns in South Carolina. More detailed meeting minutes can be found through the link provided below.

October 25, 2024 Minutes (PDF)

July 2024

The RDAC quarterly meeting was held virtually on July 26, 2024. The communications manager of HCU Network America, Liz Carter, presented to the council on her organization’s efforts to improve/increase early diagnosis of Homocystinuria through potential changes to newborn screenings. The remainder of the meeting was devoted to discussing the development of a charter for the council. More detailed meeting minutes can be found through the link provided below.

July 26, 2024 Minutes (PDF)

April 2024

The RDAC April Teams meeting was held on April 12, 2024 at 10 am. NORD Policy Manager Carolyn Sheridan served as guest speaker to address the NORD SC State Report Card. The meeting minutes and NORD SC State Report Card presentation can be accessed below.

April 12, 2024 Minutes (PDF)

NORD 2024 State Report Card (PDF)

January 2024

The RDAC January Teams meeting was held on January 5, 2024 at 9 am. Kendall Spillman was introduced as the council's new program coordinator and discussed plans for the inaugural Rare Disease symposium, to be held on February 29. The meeting minutes can be accessed below.

January 5, 2024 Minutes (PDF)

2024 Rare Disease Symposium 

The inaugural hybrid Rare Disease Symposium was held at Segra Park, 1640 Freed Street, Columbia, SC 29201 on February 29, 2024 from 10:00 a.m. to 2:00 p.m. Registered attendees gathered both in-person and virtually to learn about innovative and impactful research going on across the state, hear personal stories from those affected by rare disease and discover some of the important advocacy work that's grown out of both necessity and hope. The symposium agenda can be accessed below. 

SC Rare Disease Symposium Agenda 2024 (PDF)

South Carolina Rare Disease Symposium Wrap-up

The SC Rare Disease Council hosted a symposium that gathered rare disease researchers and advocates to chart the path forward for improved care. 

Read the full story

Rare Disease Q&A Series

A series of interviews with the Chair of SC RDAC and other participants of the SC Rare Disease Symposium.

The third interview concludes the series with research presenter Dr. Neena Champaigne, a clinical geneticist at MUSC.

Read the third interview in the series

The second interview continues the series with research presenter Maysen Mesaros, a certified genetic counselor at MUSC.

Read the second interview in the series

The first interview begins with Dr. Patrick Flume, the Chair of SC Rare Disease Advisory Council.

Read the first interview in the series

South Carolina Rare Disease Advisory Council to Host Inaugural Rare Disease Symposium

The symposium will be held on Rare Disease Day to spread advocacy and awareness about rare diseases and present current research projects.

Read more about the symposium