#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley and Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at email@example.com.
This week we have a very special edition of #ScienceSaturday that highlights a handful of recent KIF1A.ORG advancements!
New Resource from KIF1A.ORG
Interested in diving into KIF1A science but struggling with the complex technical jargon of scientific literature? Don’t worry, you are not alone. One key tenant of our open-science mindset here at KIF1A.ORG is to break down this scientific language barrier to provide accessible scientific content for all! To do so, our team created this KIF1A-related Glossary of Terms to help YOU understand recent research developments and be an active participant in conversations about KAND treatments and cures. This resource was largely created by a talented intern, Lindsey Christinger, who has been working with us this summer.
Recent KIF1A-Related Research
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder
Today we are honored to share a landmark paper for our KAND community. This study was spearheaded by the Chung Lab, our main clinical team at Columbia University, and is the reflection of many years of collaborative and persistent hard work. While reading this pre-print paper, you will take a deep-dive into the world of KIF1A Associated Neurological Disorder covering a range of topics including: a summary of clinical KAND phenotypes, KIF1A variants with corresponding frequency and disease severity, selected neuropathological observations, and cellular/molecular level assays exploring the functional implications of certain KIF1A mutations.
This paper represents significant effort by Chung Lab and other academic collaborators, and our amazing KAND community. These findings would not be possible without every single KIF1A family enrolled in the Natural History Study. It is the most comprehensive report of KAND patients to date, including data from 117 KAND patients. You’ll see KIF1A.ORG—our incredible community—is cited as a funder of this study and referral source for enrolled patients. We may be a small community, but we do some pretty heavy lifting!
We would like to extend an enormous and heartfelt thank you to the Chung Lab for being fearless advocates for KIF1A.ORG and our community. A special thank you to lead author Lia Boyle and lead PI Dr. Wendy Chung, who routinely go above and beyond to keep our community informed, empowered, and a part of the research process. Please take the time to read through this paper and learn more about our most up-to-date understanding of KAND!
KIF1A.ORG in the News
Rare Disease Advocacy Groups: Forces for Hope
KIF1A.ORG recently partnered up with the Coriell Institute for Medical Research. As a result of this partnership, we now have patient derived induced pluripotent stem cells representing KIF1A Associated Neurological Disorder in their Human Genetic Cell Repository. Because of this, these cells are now available to researchers around the world! Take a look at this article from Coriell detailing why it is so impactful for both Coriell and KIF1A.ORG, featuring an interview from one of our KIF1A families. We extend a huge thank you to Coriell for partnering with KIF1A.ORG to make critical biosamples from KIF1A patients available to researchers working to better understand KAND and find treatment.
“Groups such as KIF1A.org truly make the work we do possible. We would not have the collection that we have today without them,” said Deborah Requesens, PhD, the principal investigator of the NIGMS Human Genetic Cell Repository at Coriell. “They have the knowhow, and most importantly the passion to organize enormous numbers of people, to inspire the public and to convince scientists that this work is worth their time. It would be impossible without them.”