#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dominique Lessard and Dr. Dylan Verden of KIF1A.ORG summarize newly published KIF1A-related research and highlight progress in rare disease research and therapeutic development.
KIF1A-Related Research
Ovid scientists Noelle Germain and Patrick Sarmiere, along with Wendy Chung of Columbia University, provide an overview of RNA interference (RNAi) technology
This week we’re happy to highlight some familiar faces. In recent months we’ve heard a lot about Ovid and the Chung lab’s hard work to create RNA interference therapeutics for KAND through our conference, community calls, and recent publications. To make this work even more accessible, a new video from Ovid and Wendy Chung explains RNAi technologies with simple language and intuitive graphics. It’s a great refresher and a good way to teach friends and family about our research goals this holiday season. Thank you to Noelle, Patrick, and Wendy for creating this resource.
Rare Roundup
Raise the Line interview: The Power of a Rare Disease Community – Luke Rosen, Founder of KIF1A.org
This week Luke Rosen was interviewed by Shiv Gaglani, the founder of health education company Osmosis, to discuss KAND. The interview spanned a wide variety of topics including KAND heterogeneity, the importance of listening in clinician-patient interactions, and the sometimes understated role of siblings in supporting rare disease families. This is another excellent resource for friends and family who might be less familiar with KAND or KIF1A.ORG.
“One of the things that we learned about biotech is, you have to work non-sequentially. You can’t waste time by crossing something off the list then going to the next, then going to the next. We kind of try to take all these shots on goal at the same time and so along with the KOALA study, we’re also certainly working on finding the right animal models, but most importantly, getting cell lines from all the families.”
Luke Rosen
KIF1A.ORG is headed to the American Epilepsy Society Conference this weekend!
This weekend is the American Epilepsy Society’s (AES) Annual Conference, which brings together researchers, clinicians, and patient advocates together to discuss and learn about epilepsies. Epilepsy is both common and poorly understood in KAND, and Dr. Verden will attend the conference to learn more about epilepsy research, care, and therapeutics.
On that note, we’d like to remind you that Dr. Jenn Bain and Dr. Tristan Sands at Columbia University are running an epilepsy study and need your EEG Data! Assessing electrical brain activity across our community is one of the most valuable things we can do to understand and treat epilepsy in KAND. In addition to mailing data in, KOALA participants can also bring a hard drive with data to Columbia University during their visit.
Scrivo dalla città di Parma in Italy. Abbiamo in famiglia una diagnosi accertata di KIF1A in un ragazzo di 13 anni. Presenta una andatura lievemente anserina e lievemente falciante, L’EEG è normale, l’ENG mostra difetti sensitivi dei tibiali anteriori, la RMN del cervello mostra tutto regolare. Il ragazzo fa attività ginnica, è bravo a scuola, suona il pianoforte, scia sulla neve ed in questi ultimi anni non ha presentato peggioramento dei deficit deambulatori. E’ prevedibile che sia una forma non evolutiva? Ci sono possibilità che peggiori negli anni? Quale prevenzione fare? Grazie
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