South Carolina Rare Disease News

Find links to recent news and items of interest about rare diseases, both in South Carolina and nationwide.

Nationwide

News Articles

Using Genomics, AI, and Innovation for Rare Disease Diagnostics and Treatments

 Researchers at the Mayo Clinic Center for Individualized Medicine are using AI to aid in precision medicine for the advanced treatment and prevention of rare diseases.

 Read more about rare disease advanced therapeutic solutions

Opportunities to Improve Care for Children With Rare and Complex Conditions When Traveling Across State Lines

The majority of children with medically complex conditions, including rare disorders, depend on the Medicaid program for their health care coverage. The Advancing Care for Exceptional Kids (ACE Kids) Act is legislation that was signed into law in 2019 and will begin to be implemented in October 2022.

Read more about the ACE Kids Act

Researchers Will Use AI to Predict Who May Develop Certain Rare Diseases

A team of researchers from University of Florida Health and Penn Medicine is using a set of artificial intelligence-powered algorithms called PANDA to find rare "zebras" in patient medical records and help patients affected by certain rare diseases get diagnosed and treated more quickly.

Learn more about this AI-powered research

RDDC and NORD Announce New Partnership to Help Identify Barriers for Rare Disease Patients and their Caregivers

The new initiative seeks to identify gaps experienced by patients and caregivers in underrepresented communities along their rare disease diagnosis and treatment journey.

Read more on the NORD website

 

Videos

Women Underrepresented in Rare Disease Research

A new bill called the Securing Equal Access to Research, Care, and Health (SEARCH Act) would assist in funding initiatives to enroll women in clinical trials intended to improve understanding and treatment of rare diseases. 

Learn more about the SEARCH Act

 

State

News Articles

Starting the Dialogue on Rare Disease in SC

On February 29, 2024, SCRDAC hosted research presenters and advocacy panelists at the inaugural SC Rare Disease Symposium.

Learn more about the research and advocacy sessions at the symposium

South Carolina Report Card from NORD

In the latest edition of NORD’s State Report Card we analyze all 50 states and Washington, D.C., on eight policy issues that impact the rare disease community.

Read more about NORD's South Carolina report card

Newberry, SC Honors Rare Disease Day

The city of Newberry will "light up" in honor of Rare Disease Day.

 Read about the Newberry residents' advocacy and awareness for rare diseases

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

Hampton County, SC Rare Disease Awareness

A woman in Hampton County learns that she has the same rare autoimmune disorder as Celine Dion.

Read more about patients with Stiff Person's Syndrome in SC

Lake City, SC Resident Battles Genetic Disease

A SC resident struggling with Chronic Granulomatous Syndrome shares how the rare genetic disorder impacted her family.

Read about advocacy for CGS

Sumter County, SC Infant Diagnosed with Leigh Syndrome

A family in Sumter wishes to spread awareness about Leigh Syndrome after their daughter was born with the rare neurological disorder.

Read more about the family's experiences

Newborn Screening for Rare Diseases

Families experience the benefits of newborn screening to test for disorders such as Pompe disease that are undetectable at birth.

Read more about newborn screening panels

Genetic Counseling Programs

Patients and genetic counselors at MUSC address the importance of genetic testing to screen for disorders and assess treatment plans.

Read more about genetic counseling programs

NORD SC RAN Ambassador

A Charleston Southern University Nursing Instructor becomes a NORD SC RAN Ambassador and lobbies for the SC Rare Disease bill after her son is diagnosed with Mosaic Trisomy 22.

Read more about advocacy and awareness for RDAC

 

Interviews

Rare Disease Q&A Series

A Q&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

Rare Diseases on South Carolina Public Radio

Bobbi Connor talks with Dr. Patrick Flume about rare diseases in SC. Dr. Flume is Director of the Cystic Fibrosis Center at MUSC, and Chair of the Rare Disease Advisory Council.

Listen to the interview

Bobbi Conner talks with Dr. Charlie Strange about rare diseases. Dr. Strange is a Professor of Pulmonary and Critical Care Medicine at MUSC.

Listen to the interview

 

Videos

Georgetown, SC Teenage Boy Undergoes Brain Surgery for Rare Disease

A teenage boy and his family sought answers to a mysterious disease for 5 years before reaching a diagnosis of Midaortic Syndrome with Moyamoya.

Learn more about the family's search for a diagnosis