Project CASK Podcast

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 bana...

🎙️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...

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 &am...

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 research...

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 strate...

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*💊 S...

📣 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 th...

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 wit...

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!...

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

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 th...

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...

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....

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! B...

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 presen...

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 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 ye...

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....

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 #kickingcas...