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. 

This episode is dedicated to all the beloved ones we have lost in our cask community. Their names will forever be in our hearts, and on our minds. Spoken in our homes, our community, and in our advocacy.  May the peace which comes from the memories of love, comfort their families and all those who loved them on the road ahead. Mental Health in Rare Disease - Global Genes Rachel Alves, mama to 8 year old Audrey shares with us about her journey to diagnosis, and her exploration to the betterment of mental health. Links and resources mentioned: Global Genes Advocacy Summit Kara Ryska - coaching website The Special Needs Mom Podcast - Kara Ryska, featuring Rachel Alves Jessica Patay - We Are Brave Together Effie Parks - Once Upon A Gene - episode 184 Connect with Rachel: Blog @alvesmomkickingcask Rach.m.alves@gmail.com

Join us as we chat with Emily Stiglitz, mama to two year old Sophie! We talk about the ups and downs of a new diagnosis, and learn a little more about her journey.

Enjoy this link to the Fralin Biotechnical Research Institute's beautiful video of the Steglitz's experience of intensive therapy:

https://youtu.be/j6OyB1v85OM

Take aways from Emily:

+ Don’t let the diagnosis define your child. They will shock you with how much they’re capable of doing.

+ Advocate!!! No one loves your child more than you and they aren’t always able to speak up or make decisions for themselves.

+ Worry about tomorrow, tomorrow.

+ Be prepared to experience a love greater than anything in this world!

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

Hello and welcome to the Project CASK Podcast! This is a place for the CASK community to gather to share our stories, deepen our connections, learn from each other and hopefully find laughter and joy as we travel this rare disease journey together. Reach us at CASKpodcast@gmail.com with your ideas for upcoming episodes! Can’t wait to hear from you 🦄🦁💕🧬✨ #caskgene #caskgenemutation #kickingcask #projectcask #raredisease #ultrararedisease

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!

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.

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

hello@projectcask.org

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.