August is here — and so is Make a Splash for CASK, our annual global fundraiser to raise awareness and fuel therapeutic development for CASK gene disorders.

In this episode of The ROAR, Project CASK co-founder Hitomi Kubo invites listeners behind the scenes to learn how research, community, and creativity come together in our mission to find treatments and a cure for CASK. Using a memorable banana split ice cream sundae metaphor, Hitomi walks through the essential ingredients needed to build a successful rare disease nonprofit — and the powerful impact of community-led fundraising.

You’ll learn:

• Why deep understanding of CASK gene disorders is essential to progress — including the world’s first CASK prevalence study, community-reported symptom data, and strategic scientific collaboration.

• How Project CASK is building research infrastructure — from mouse models and brain organoids to a biorepository of CASK samples.

• What cutting-edge therapeutic programs we’re funding — including gene replacement therapy, small molecule strategies targeting cerebellum degeneration, and an in-depth epilepsy study.

• Why education and outreach matter — and how we’re equipping families, clinicians, and the public with tools to drive awareness and advocacy.

• How your participation in Make a Splash for CASK powers every part of this mission — and why every single fundraiser makes a difference.

Whether you're a parent, researcher, or advocate, this episode will inspire you to get involved — and give you the roadmap for how community engagement translates into real progress for ultra-rare CASK disorders.

Join the Movement:
Make a Splash for CASK this August by signing up: givebutter.com/Liocorn/join
Learn more: projectcask.org
Follow us on social: @projectcask

🎙️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/X3DoyBRXUoU

Here’s what’s inside:

🧬 What recent progress in gene replacement trials means for our CASK kids and why it matters

https://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 study

https://www.projectcask.org/cask-assets

💛 Why developing therapies takes more than just funding studies and what we all can do

https://www.citizen.health/partners/project-cask 

🌊 How families can Make a Splash for CASK this August to advance breakthroughs our kids urgently need

https://givebutter.com/Liocorn/join 

🗣️ Why now’s the time to contact your senators and help protect Medicaid for rare and medically complex kids

https://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 together

https://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

The latest episode of [ The Roar ] is here!

This episode, we’re diving into:

🩵💜🩷 A huge thank you to our community for your incredible Rare Disease Day advocacy—your voices matter!

🔬 [1:00] Research updates - what’s happening behind the scenes on CASK gene research

🎨 [5:15] The Ultra Rare Collection fundraiser – Join us, share and follow 

@ultrararecollection

⚖️ [7:35] Federal budget cuts & advocacy for Medicaid – Sharing our stories to help build understanding of the importance of Medicaid, the Everylife Foundation for Rare Diseases, and Project CASK-funded research is still moving forward!

+ Medicaid and Federal Funding take action with Everylife Foundation:

https://everylifefoundation.org/rare-advocates/take-action/

+ Sign up for Citizen Health + Project CASK:

https://www.citizen.health/partners/project-cask

+ Create your personalized Liocorn Donation page:

https://givebutter.com/Liocorn/join

+ Register with Project CASK:

https://www.projectcask.org/register

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-day

March - 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=10s

May - 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-cask

Update 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 2025

https://www.tfaforms.com/5104302

We look forward to a promising 2025 together! 

Happy New Year, CASK community! We’re back with a new episode of the ROAR 🦁🎧 your one-stop for research-related information and other happenings in the CASK community.In this episode, we talk about our ⚡️WHY⚡️ and the role, responsibilities and commitment of Project CASK to you and our children as a Patient Advocacy Group for the CASK community. We share the core principles, values and strategies that we apply in our work including:🧬 Putting our children and your voices first🧬 Applying rigor and due diligence in our scientific strategy 🧬 Being a catalyst for change in the research arena🧬 Building and honoring community through transparency, information and education🧬 Raising awareness and driving change with external stakeholdersThere are also reminders about:🩵💚💜🩷 Rare Disease Day shirt

🧠✨ CASK epilepsy study - https://www.projectcask.org/cask-epilepsy-study

⚡️⚡️Enrollment in Citizen Health⚡️⚡️ - https://www.citizen.health/partners/project-cask

🧬 Updating records in Rare-X - https://rare-x.org/cask/Be sure to follow us on your preferred social media platforms to stay up to date on all the kick cask happenings! @projectcask

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.

📣 More details on the gene replacement study being funded by Project CASK! 🧬We recently shared that Project CASK is awarding a two year $375 thousand dollar grant to support the early phase of translational research aimed at developing a gene replacement therapy for CASK. Check out this episode of The ROAR to learn more!We are thrilled to partner with Dr. Mingshan Xue, Associate Professor in the Department of Neuroscience and Department of Molecular and Human Genetics at Baylor College of Medicine, on this monumental project. With over 15 years of experience in neuroscience, including developing mechanism-based therapeutic interventions for neurodevelopmental disorders, Dr. Xue is a prime partner to embark on this incredible journey for CASK gene disorders.Thank you to the CASK community and the many advisers, partners, supporters and donors who made this dream a reality.And, stay tuned for the forthcoming announcement of our second grant award!

Grab a cup of hot tea and a cozy blanket for this intimate conversation with Australian CASK mum, Louis Konz. Mother to sixteen year old Bethany who received her diagnosis “later” in life, Louis eloquently shares her journey in motherhood where she learns to take Beth’s pace in life. Her warmth, wisdom and resilience are a comfort to the soul. We hope you enjoy this conversation as much as we did!

The Hanon Program - https://www.hanen.org/programs/it-takes-two-to-talk

Project CASK Studies - https://www.projectcask.org/studies

REGISTER with Project CASK - https://www.projectcask.org/register

[email protected]

Social media - @ProjectCASK

Join in this collective community effort and honor our fathers and father figures, who support us and our families on this CASK journey.