South Carolina Rare Disease News

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

Phenylketonuria Over Time: What We're Learning from a Natural History Study

The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium is conducting a longitudinal study to learn more about PKU and similar conditions to improve treatment and quality of life for patients.

Read more about the study

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.

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

Starting the dialogue on rare disease in South Carolina

The South Carolina 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

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.

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

Group provides access to public places for kids with rare diseases

Tameka Simmons founded Through Evely's Eyes, a Greenville based non-profit which provides support and resources for families with children diagnosed with rare diseases.

Watch the video