The Symposium, held Feb. 24 at Syneos Health in Morrisville, NC, brought together clinical researchers in industry and academia, advocates, patients and their families, health care providers, legislators and sponsors to discuss “the present and future state of clinical research in rare disease and the latest initiatives driving change.”
Tara Britt, Associate Chair of the NC Rare Disease Advisory Council, has joined the steering committee of The Forum for Collaborative Research’s Rare Diseases Forum which facilities drug development for the treatment of inborn errors of metabolism and other genetically based rare diseases.
The expanded newborn screen tests will include screening for Pompe disease, Mucopolysaccharidosis type 1 (MDS 1), and X-linked AdrenolevKodystropy (X-ALD). NC Representative Gregory Murphy, MD will make a press announcement Wed. May 30th @ 9:30 in the General Assembly Press Room. All patient advocates are invited to attend and state with him at the microphone.
One out of every 20 people will live with a rare disease at some point in their lifetime. Many go undiagnosed, and for most, there is not a cure. At Duke University, Dr. Louise Markert is pioneering a regenerative therapy for DiGeorge anomaly, a disease in which children are born without a thymus gland, and hence little to no immune system.
The University of North Carolina at Chapel Hill cross country team drafted its youngest member Tuesday, 8-year-old Yash Krishnan. For Krishnan it was a dream come true and an opportunity to take his mind off his illness
Ryan Dant was born with mucopolysaccharidosis I, or MPS I, a rare disease that was expected to end his life by the age of ten. But on Saturday, May 13, Ryan graduated from the University of Louisville thanks to two clinical trials that helped Ryan and others to live longer.