Project CASK Podcast

🎙️The latest episode of the ROAR is here, full of exciting updates and real ways you can help move the needle for the CASK community. https://youtu.be/X3DoyBRXUoUHere’s what’s inside:🧬 What recent progress in gene replacement trials means for our CASK kids and why it mattershttps://youtu.be/_wZ3-GUuyBc?si=A6ZcqCiNKCgj7yS2 🧠 A spotlight on the 2nd CASK Scientific meeting - collaboration for acceleration plus a deeper look at cerebellar degeneration🧪 How our sweet CASKies can participate in sample collection for the CASK biorepository hosted by COMBINEDBrain and the biomarker studyhttps://www.projectcask.org/cask-assets💛 Why developing therapies takes more than just funding studies and what we all can dohttps://www.citizen.health/partners/project-cask 🌊 How families can Make a Splash for CASK this August to advance breakthroughs our kids urgently needhttps://givebutter.com/Liocorn/join 🗣️ Why now’s the time to contact your senators and help protect Medicaid for rare and medically complex kidshttps://everylifefoundation.org/rare-advocates/take-action/🗓️ And how we’re building toward CASK Gene Awareness Day on July 15, a moment to raise our voices togetherhttps://www.twibbonize.com/profile Get ready, get set and ROAR! We may be rare, but together we’re loud, loving, and unstoppable.🎙️ Listen here: https://youtu.be/X3DoyBRXUoU

We have an exciting year ahead, and look forward to sharing it with you! Listen in as Hitomi Kubo shares in more detail, on what’s to come in 2025…Feb - Roar For Rare! Share how you’re Roaring for CASK and all rare diseases, and tag @projectcask! Social frames in multiple languages can be found here: https://projectcask.org/#cask-gene-rare-disease-dayMarch - Meet Dr. Mingshan Xue, lead researcher of the CASK gene replacement therapy, the most proven gene therapy technique currently applicable for CASK. More info on the study:https://www.youtube.com/watch?v=bftS7quS8DU&t=10sMay - The Ultra Rare Collection - Ultra Rare Art to Cure an Ultra Rare Disease. Our 2nd Edition of this online and in-person art auction is back with a new theme - The Mother of All Art Shows - art about motherhood, caregiving, and love. https://www.ultrararecollection.com/July - CASK Gene Awareness Day; let’s celebrate our Liocorns and honor those who remain in our hearts.Aug - Make A Splash For CASK! Our 2nd annual peer-to-peer community-wide fundraiser. Join us in raising funds for research and showcase our Liocorns’ love for water! Renée Roquet’s community fundraiser: https://www.instagram.com/p/C_EdkDlSSf3Yxblx_mpyz5TGCGu0bkvSp56wJo0/Oct - CASK Family & Science Conference - Coming together as a community to learn, connect and find inspiration.REMINDERS:Please register for Citizen Health + Project CASK (takes 3 minutes!): https://www.citizen.health/partners/project-caskUpdate your Rare-X surveys here:https://rare-x.org/cask/CASK seizure study:https://www.instagram.com/p/DF2lwMBSqam/Make sure to register with Project CASK to stay in the know for all things 2025https://www.tfaforms.com/5104302We look forward to a promising 2025 together!

In this episode, Hitomi provides an overview of where we are and why on our roadmap to treatments and a cure, shared at last weekend's Project CASK Open House!Hear about:🤝 Step 1: Build the team - scientists, partners and community!🧫 Step 2: Build the research - mice, iPSCs and data collection.🧰 Step 3: Studies to expand understanding of CASK - Epilepsy, Prevalence and Natural History*💊 Step 4: Preclinical - Gene replacement and small molecules (we are already here, folks!!!)And our latest call to action on how you can easily help accelerate research into treatments for our children.

We’ve launched our first Request for Applications (RFA)! What’s in it and what’s next? Check out this message from Hitomi Kubo of Project CASK, breaking down the basics of this exciting new step in our collective journey to kick CASK! *****Project CASK has launched its first Request for Applications, building on the discussion at the CASK Think Tank on 4 December 2023. Managed in collaboration with the Orphan Disease Center, University of Pennsylvania, we are seeking proposals that will make a significant impact on the CASK community and accelerate our path to effective therapeutics for CASK gene disorders in one of two categories:Seed grants of up to $50,000 for 12 months: These grants will support studies to better understand CASK gene disorders and/or support clinical studies. Proposals should respond to key gaps in the knowledge of or research assets for CASK disorders that are critical to the pursuit of therapeutic development, including future clinical trials.Translational grants of up to $250,000 for 24 months: These grants will drive forward translational research from drug repurposing and small molecules to gene therapies including forward-looking approaches to address current limitations specific to the CASK gene, RNA editing or other RNA based approaches, and novel techniques for x-linked neurological disorders.

On this episode of The ROAR, we are thrilled to share the news of an upcoming epilepsy and seizure study!This study titled, “Identifying biomarkers for epilepsy in patients with CASK associated pathogenic variants” will be led by Dr. Asim Shahid, Cornell/NY Presbyterian Hospital, in partnership with and partially funded by Project CASK. We are not currently recruiting participants for the study. Once IRB approval is received in (hopefully) one month, active recruitment will begin!Stay tuned for more information about how US families can get involved in this exciting research. Be sure to sign up for our newsletter and feel free to reach out to us at research@projectcask.org!#epilepsyresearch #caskgene #rareasunicorns #strongaslions #TheROAR #ProjectCASK