Research Simplified with Pedro Guedes-Dias

Research Simplified with Pedro Guedes-Dias

Research Simplified with Pedro Guedes-Dias Pedro Guedes-Dias collaborated with KIF1A.ORG to explain the KIF1A research being led by him and others at Holzbaur Lab. Part of this research helps us understand why there is a great range in symptoms and severity among people affected by KIF1A-related disorders. In this edition of Research Simplified, we’ll take…

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How I Became a Stubborn Optimist

How I Became a Stubborn Optimist

By Kathryn Atchley Originally published at 7billionones.org on February 27, 2019 In January 2017, my now five year old son, Parker, was diagnosed with a mutation in his KIF1A gene. After two years of searching, my husband Tyler and I had one answer to so many questions. Why is Parker falling all the time? Why can’t…

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Research Simplified with Dominique Lessard

Research Simplified with Dominique Lessard

Research Simplified with Dominique Lessard Dominique Lessard collaborated with KIF1A.ORG to explain the KIF1A research being led by her and others at Berger Lab. Through this research we learn what distinguishes the KIF1A motor protein as one of the most effective at cargo transport. In this edition of Research Simplified, we’ll take Dominique’s research paper,…

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Pause

By Sally Jackson Originally published April 17, 2018 I was recently asked if I was confident that a cure for KIF1A would be found – and the way in which I was asked was very nearly a rhetorical question; “And you believe that a cure will be found, yes?” My answer, though, was not automatic….

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The Elevator

By Luke Rosen Originally published March 8, 2018 A few months ago I was invited to speak to a group of medical students about KIF1A and how our daughter was finally diagnosed with such a rare condition. We talked about the difficulty of accessing appropriate genetic testing, and the delay in receiving results. A student asked me…

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Cost Analysis of Starting a Rare Disease Foundation

By Luke Rosen Originally published August 31, 2017 As our foundation thrives, more families with KIF1A find our community, and scientific discovery is taking flight, an important conversation emerges about how family and patient-led foundations start — and if it’s possible to facilitate the discovery of treatment for rare disease. A large part of that…

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