The lack of information around rare diseases has typically meant that when patients and families received a clincial diagnosis they would often spend their lives in insolation not knowing how to contact other people with similar disorders or even knowing if there are any other people with the same condition.
However, with the advent of the internet and genome sequencing, it is now possible to contact families who have the same genetic disorder. This then allows families to join together, raise funding and awareness for their condition with the overall aim of discovering a cure for their rare disease.
Here we interview Luke Rosen, who with his wife Sally, founded KIF1A.ORG, and their daughter’s physician, Wendy Chung. We discuss their family’s journey to discover the cause of Susannah’s rare disease, and the unique, collaborative approach to building KIF1A.ORG.