Rare Disease, Real Results: The Team That’s Exploding Research for a Rare Brain Disorder
By Mackenzie Smith, C2ST Intern, Loyola University
Imagine your child is sick, and no amount of doctor visits provides a satisfying answer as to what they are facing. Before 2016, this was the case for families affected by a rare disease known as Okur-Chung neurodevelopmental syndrome, or OCNDS. This all changed when researchers discovered mutations in the gene “CSNK2A1.” These mutations cause what is now known as OCNDS. I sat down with the Chief Scientific Officer of the CSNK2A1 foundation, Dr. Gabrielle Rushing, to reflect on this earth-shattering finding now that nearly a decade has passed. Together we discussed the important question: When a rare mutation is found, what are the next steps to make meaningful changes in the lives of patients?
