03 Mar How Patients With Rare Diseases Are Accelerating Groundbreaking Research for Their Communities
CZI’s Rare As One Network grant partners are driving scientific breakthroughs to fight for the lives of their loved ones.
Kim Nye spent a decade traveling the world seeking a diagnosis for her daughter, Tessa, who was having more than 100 seizures daily. When Kim gave birth to her son, Colton, he began having seizures shortly after birth, just like his sister.
By examining the DNA of Nye’s children, researchers were able to discover the cause of their disease. They became the first and second patients in the world ever diagnosed with SLC13A5 Epilepsy — a neurological disorder associated with the mutations in the SLC13A5 gene.
Since there was virtually nothing known about the disease, a year after her children’s diagnosis, Nye launched the TESS Research Foundation, a non-profit organization working to expedite research and diagnosis, identify new treatments, standardize management, and ultimately, cure SLC13A5 Epilepsy.
In just eight years, the Foundation has stood up a patient registry with 130 patients from around the world, hosted seven research conferences, facilitated the development of cell lines, disease models, and research that has paved the way for the development of a treatment for this disease…