Project CASK Podcast – Details, episodes & analysis

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

Our special guest today is Stefanie Trask, mama to the absolutely adorable Ellie and the sweetest big brother, Bo.

Lately, we’ve had many questions from newly diagnosed parents about intensive therapies, and we’ve seen an expansion in the types of therapies and the places our CASK families are going for intensives. So, we thought it would be helpful to dedicate an episode to exploring intensive therapy!

Among the many places, two of the most popular within our community are the NAPA Centre, and the Neuromotor Research Clinic at the Fralin Biomedical Research Institute at Virginia Tech.

In the last year, Ellie has been to both NAPA and Virginia Tech, so we thought Stefanie would be an incredible resource to have on the podcast to share about these two therapies. She is also a master fundraiser, so we hope she can share some tips on how she has raised resources for Ellie to be able to attend these therapies.

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Check out our For Families - Intensive Therapies resource page for more intensive therapy centers

Follow us on social at @ProjectCASK

hello@projectcask.org

www.projectcask.org

In this episode, Hitomi highlights Project CASK’s two exciting new partnerships — the Rare Disease Translational Center at Jackson Laboratory and Combined Brain — and the opportunities they open for the CASK community.

There are some really exciting things in the pipeline with these two and you’re not gonna want to miss out!

There’s a refresher on the status of the grants program and the epilepsy study, and a look ahead at what’s in store in the next few months!

Listen, like and share, and let us know what questions you have. We’d love to hear from you!

🎙️🦄🦁💞

#projectcask #theroar #caskresearch #caskgene #curecask #glitterandroar #rareasunicorns #strongaslions 

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

This week we talk with neurologist Dr. Laurie Seltzer, registerd dietitian Leean Habben, and CASK gene mama Christine Phillips regarding the ketogenic diet, and it's positive impact on epilepsy! Don't miss the updates on our new project; Project CASK! CASK family, we are delighted to be back on the podcast with you, I know it has been a while since we’ve dropped any episodes and for good reason! By now you may have seen that we have launched an innovative rare disease non-profit; Project CASK, driving breakthroughs for treatments and a cure for CASK gene disorders and we have hit the ground running. We have an amazing team of CASK moms and dads, extended family and trusted advisors working on our boards. We feel incredibly blessed to have these leaders and our community. A few highlights of our progress in these last three months include Project CASK’s partnership with the Orphan Disease Center, with whom we will be co-hosting the first ever multi-disciplinary global meeting on CASK - the CASK Think Tank. We’ve also released our motto; Rare as Unicorns, Strong as Lions, and our spirit animal, the Liocorn (part unicorn, part lion); who is a lot of glitter and a lot of roar, just like our children. We have also begun to gather artists for the Ultra Rare Collection… but more on that later! For now, let’s get to our interview with neurologist Dr. Laurie Seltzer, registered dietician Leeann Habben, and CASK mama Christine Phillips!

This week we have CASK mamas Rachel Alves, Amanda Ruebusch and Alexis Taylor. These three mamas did something probably most of us dream about but don’t manage to do. They attended a weekend retreat for mothers of children with disabilities hosted by non profit, We Are Brave Together, and they’re here to tell us about it!

Today our special guest parent is Christine Phillips, mama to Emmy and Andy… 

Being such a small community, it’s probably the case that our children are all unique. But in that sea of originality, little Emmy is a truly rare gem, having been born with both spina bifida and a cask gene mutation.

In this episode, we cover quite a few topics. From dual diagnosis, to recognizing unusual seizure presentation, g-tubes, keto and a blended diet, ableism, and creating an environment rich for our children's unique needs! We are incredibly thankful to have Christine share with all of us; she is a true warrior mama!

You can follow Christine and Emmy's story on Instagram at @emeliasstory

Today, June 18th, we celebrate Father’s Day in Chile, France, Ireland, Lebanon, the Netherlands, Nigeria, the Philippines, Russia, the United Kingdom, the United States and so many other countries across the world. It is a day dedicated to the fathers and father figures in our lives. A day to acknowledge the ways in which they make our days and our worlds just a bit better. For this Father’s Day, we invited the members of our community to share a message of appreciation for their CASK dads. In our outreach for this episode, we saw of glimpse of how many of our families are delicately and perhaps precariously balancing home, hospital, therapy, other children and work. Sometimes it is the perfectly timed joke or the offer to take the night shift. Maybe it’s the positive outlook, the knowing glance or the long hard days at work providing for the family’s needs. Whatever it might be, our dads are an instrumental part of making this CASK journey work. We hope you enjoy this special episode of the Project CASK podcast, a compilation of messages from the CASK community across the world in celebration of Father’s Day. 

We are so happy to have CASK mama Allie Dowell on the podcast! Allie has a particularly unique position as a mom of a boy with cask, a carrier herself, an early intervention therapist and an adjunct professor. 

In this episode we learn about both Allie and her son’s diagnosis stories as well as her journey through the process of grief and finding joy.