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Rare Disease Day

March 20, 2019

Video: For Rare Disease Day, a conversation with a family with a rare disease.

3 New rare diseases added to NC Newborn Screening panel

May 31, 2018

A provision in the NC budget announced this week adds three tests to the state’s newborn screening panel. The new screenings will test for Pompe disease, Mucopolysaccharidosis type 1 (MDS 1), and X-linked Adrenoleukodystropy (X-ALD).

Duke Doctor Pioneers Rare Disease Experimental Therapy

February 9, 2018

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.

Warned he would die by age 10, Ryan Dant just graduated college

May 12, 2017

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.