Our mission is to save the life of every child affected by KIF1A. The only way to discover treatment is to immediately accelerate research by convening the world’s leading scientists in childhood genetic and neurodegenerative disorders. This collaboration will lead to treatment and increase the quality of life of those affected by KIF1A. It is vital for us to drive science, fund immediate research and find a way to stop the progressive nature of this disease.
Dr. Wendy Chung is a board certified clinical geneticist with a PhD in molecular genetics. She is director of the clinical genetics program at Columbia University and co-director of the molecular genetics diagnostics lab there. In a brief video explaining the work she and her team are doing on KIF1A, she talks about her role in its treatment and research.
“KIF1A is just one of many unfortunately rare genetic conditions. I happen to be a doctor for children and individuals with rare genetic conditions, and my job is kind of to be their Sherpa and to help them along this process to understand what club they’re a member of, in other words what their underlying genetic is, and ultimately help them with the care until we get to the point of a cure,” She says. “In other words, to be able to keep them as strong and as healthy as possible while, at the same time, working towards understanding what’s causing their disease so we can come up with better treatments for them.”
Dr. Chung emphasizes the crucial factor of time in the fight to help her patients. “It’s a ticking clock in the back of my head and in the back of the head of all the families, because we do know that we have a window of opportunity that I hope is something like 5 -10 years in terms of when the time a child is diagnosed until we can really be able to stabilize this and give them meaningful life, but every day matters, and that’s why we’re working so hard to be able to come up with a cure for this.”
View the video at: http://www.kif1a.org/research.html