CASK Gene Foundation, Provo, UT (2026)

07/15/2025

🎉 We are thrilled to celebrate our 5th annual CASK Gene Awareness Day! 🧬💙
This is a day to tell the world how many voices strong our cause has become. 🌍🗣️

📊 As of this moment, the CASK Registry has documented 355 unique CASK cases across 47 countries! 🌐🌟

👶✨ This year, we were pleased to be presented with our first confirmed case of a CASK gene disorder being diagnosed before birth — a groundbreaking milestone in early detection! 🍼🔬

If you want to add your CASK diagnosis to the global count, you can do so at caskgene.org/registry

If you want to check the status of your CASK diagnosis in the CASK Registry, you can do this at caskgene.org/registry-status

05/07/2025

We’re Looking for Caregivers of Children with Rare, Genetic Neurodevelopmental Disorders 🧠👩‍👧‍👦

CASK Gene Foundation is partnering with COMBINEDBrain for a research study to better understand the needs of rare neurodevelopmental disorder families. 🧬🔬

MISSION 🎯
Researchers, together with CASK Gene Foundation & COMBINEDBrain, are trying to determine the most impactful symptoms of rare, genetic neurodevelopmental disorders to inform meaningful outcome measurements in future clinical trials. 🧪📊

WHAT 📋
A 60–90 minute, audio-recorded interview 🎙️ consisting of a conversational questionnaire about your child’s symptoms and treatments to learn how these impact you, your child, and your family ❤️.

WHY 💡
By sharing your story, you’ll help researchers determine what matters most to the rare, genetic neurodevelopmental disease community. Together, with input from caregivers and other healthcare providers, we hope to inform future clinical trial outcome measurements and improve health care management of children with rare, genetic neurodevelopmental disorders 👨‍⚕️👩‍⚕️.

WHO 👥
We need caregivers that are 18 years or older of a child with a medical diagnosis of a CASK gene disorder (mutation, deletion, duplication, etc.) 🧬.

HOW 📝
If you are interested in participating, please complete and submit the form found at https://www.caskgene.org/cask-concept-study 📩.

03/11/2025

🎉 Exciting News! 🎉

We will soon be posting the video of this year's random drawing for CASK Family Scholarships. There are two categories this year:

🏆 4 $500 Scholarships
🏆 1 $2500 Intensive Therapy Assistance Scholarship

If your application was submitted before January 31, 2025, and found eligible, you should now have an email with your letter or number for this drawing. 📧

If you didn't get a chance to apply for these random drawing categories, you can still apply for financial assistance! The CASK Family Scholarship is now open year-round for waitlisted assistance. 🌟

👉 Apply now at caskgene.org/scholarships

02/28/2025

Happy Rare Disease Day!

Want to know how rare CASK is? As of today, there are 337 cases across 46 countries which have been reported in the official CASK Registry.

Enter or update your CASK case into the global CASK Registry ROLL CALL form and help make our collective voices louder. Let’s make the world hear our cause and know that this is a big enough problem to warrant better funding for research and treatments, and better insurance coverage for our CASK-specific needs!

Visit caskregistry.org to read more about the CASK Registry, or
Head to caskgene.org/register to jump straight to the form!

How many cases do you think will be reported by March 15? Comment below with your guesses!

01/29/2025

Join us and our friends at the Pediatric Epilepsy Surgery Alliance, DEE-P Connections, the Rare Epilepsy Network, and the Angelman Syndrome Foundation, for an empowering and informative webinar, Growing Together: Navigating the Life Stage Checklist for Families.

Walk through the Transition to Adulthood/Life Stage Checklist step-by-step, breaking down key milestones and actionable steps across critical life stages - all the way from early intervention to adult services, and talk with a panel of experienced parents who will share their journeys.

Who Should Attend:
This webinar is ideal for parents and caregivers of children with disabilities, educators, and advocates seeking clarity and actionable strategies to support young people through life’s stages.

🗓️ Thursday 6 Feb. 3 EST
register now at
https://us02web.zoom.us/webinar/register/WN_VIE2h1tbSfK4rdg2B9masg #/registration

Thank you to .epilepsy.network and

01/13/2025

Dr. Konark Mukherjee hypothesizes that changes within the structures of the vision pathway are likely to inform us about how loss of CASK is affecting the nervous system.

Join us for a live Q&A session, if you have any questions about his current study, or need assistance signing up!

Links for Q&A session registration:
(times are US central)

January 14, 8 pm
https://us06web.zoom.us/meeting/register/dmRO81QWTWim4E6mmI50bA

January 15, 12 pm
https://us06web.zoom.us/meeting/register/AbbuuFpcR6OTYXRrW-Y0cA

12/23/2024

🌟 Exciting News from CASK Gene Foundation! 🌟

When the CASK Gene Foundation established the CASK Gene Biorepository with COMBINEDBrain in June 2023, we aimed to deeply understand the processes for the benefit of CASK families contributing samples to this valuable research library. 🧬✨

As a result, the CGF founder's clinic became an authorized collection site for all rare diseases participating in the biomarker studies with COMBINEDBrain. This year, we were thrilled to see the research results, including the first samples collected at this location. We're honored to be part of the efforts to collect CASK samples for inclusion in both large-scale biomarker studies and smaller CASK-specific research endeavors. 🏥🔬

We are currently scheduling collections across the US for blood, nasal swabs, and urine for the CASK Gene biorepository and COMBINEDBrain biomarker studies. If you are interested in participating, please email 📧 [email protected] to learn more.

💪

12/12/2024

🌟 Meet Catalina! 🌟
Cata is a bundle of joy and energy! She lights up every room with her infectious smile and boundless enthusiasm. She loves playing with other children. Her eagerness to make friends and her cheerful demeanor make her a joy to be around.

She loves:
- Music & Dancing: Cata loves to groove to her favorite tunes and can often be found dancing around the house.
- Water Play: Whether it's paddling at the lake or splashing in the pool, Cata is happiest when she's in the water.
- Active Games: Jumping on the bed, running, climbing, and bike rides are just a few of the activities that keep her moving.
- Nature: She enjoys spending time outdoors, exploring and soaking in the beauty of nature.
- Books: Like her older brother, Cata adores books and loves being read to.

Cata faces the challenge of living with a CASK gene mutation, which affects her motor skills, as well as her intellectual and language development. Her family's goal is to provide her with the tools she needs to achieve the greatest possible independence.

Her greatest helps include:
- Physical Therapy: This has been crucial in helping Cata develop and refine her movements, enabling her to walk, jump, and climb.
- Occupational Therapy: It has improved the mobility and ability of her left side, enhancing her fine motor skills.
- Speech Therapy: This helps Cata incorporate new words and improve her pronunciation, contributing to her overall comprehension.
- Music & Audiovisual Materials: These have played a significant role in her stimulation and development.

Like CASK Gene Foundation, Cata's family is dedicated to improving the lives of all those affected by CASK-related disorders. Cata's fundraiser supports the following priorities:
10% to the general fund
40% to CASK research
40% toward education and awareness
10% to family support programs

Join us in supporting kids like Cata to shine even brighter! 🌟
Text 4CASK27 to 71777 or visit fundraise.givesmart.com/vf/4CASK/team/Cata

visit caskgene.org/gallery/faces to add your own CASK warrior or angel to our gallery

12/09/2024

The CASK Registry natural history study is taking a deep dive into some amazing eyes! This focused portion of the study is being conducted by Konark Mukherjee, Ph.D., MBBS, in partnership with CASK Gene Foundation (CGF), using de-identified data gathered and curated by CGF. Access to enrollment and participation in this study will is available through our CASK Gene Matrix patient portal.

To request access to this and other studies currently being conducted or hosted by CGF, submit a new or updated registration form, and check the box for the CASK Gene Matrix patient portal.

Register now at caskgene.org/register
or learn more about the CASK Registry natural history study at caskregistry.org

12/05/2024

📢 The CASK Family Scholarship Application is Now Open! 📢

Established in 2020 as a initiative, the CASK Family Scholarships aim to provide financial assistance to families affected by CASK gene disorders. These scholarships help cover medical expenses, therapies, equipment, and other essential needs that insurance may not fully cover.

Thanks to the regular contributions from donors to the 4CASK fundraising campaign, this program is now funded year-round. We are especially grateful for the generous sponsorship from the annual Friends of Sophia Marie Golf Outing, which enables us to extend this vital support to more families worldwide. 🌍❤️

Currently, the CASK Family scholarship program offers three different options. Each CASK patient may be considered for just one of these three scholarships. The final recipients will be asked to provide in return a note of thanks for the donors, and this can include a picture if desired - or it can be entirely anonymous. This application will remain open through January 31, 2025. 🗓️✍️

apply now at caskgene.org/scholarships

💪 🚀 🤝 🌟

12/01/2024

🎉 You did it! 🎉

We were aiming for at least 30 CASK cases in the Citizen Health system by November 30, so that all CASK researchers and researching foundations could have access to this valuable real-world data in the first batch of data being delivered 2025. 📊

The dashboard is showing 40 completed ✅, and as long as at least 25 of those were set up sufficiently for Citizen Health to gather their records, then CASK will be included! 🧬

The recruitment challenge is over, and the sweepstakes window closed, but you are still welcome to sign up for this helpful service at any time. 📝

🌐 citizen.health/partners/caskgene

💪

11/22/2024

Our Citizen Health webinar recording is now available! 🎉

Here’s a brief recap of the webinar, and what you’ll see in the recording:

Kristina Hone:
📸 shares her daughter’s ultrasound imaging as viewed in the Citizen Health platform
💬 talks about how this platform has helped improve her life and her daughter’s care

Kate Haldeman:
📜 summarizes the history, purpose, and power of the Citizen Health mission
🔍 demonstrates how citizen health de-identified data can expedite research
🎁 explains the current “share for rare” recruitment challenge and sweepstakes incentive

Mequel Bunch:
🔒 details the security measures for the platform and research study
🛠️ demonstrates the onboarding process and shows how to contact her via chat
🤝 shows how you can choose to share your contact info with both CASK Gene Foundation and Project CASK

Dr. Konark Mukherjee, PhD, MBBS:
💡 shares his thoughts on what Citizen Health is offering
🧬 explains how this real-world data can help focus CASK research and improve his work

Watch the webinar at caskgene.org\citizen 📺
Sign up for Citizen Health at citizen.health\partners\caskgene 📝

💪

CASK Gene Foundation

07/15/2025

05/07/2025

03/11/2025

02/28/2025

01/29/2025

01/13/2025

12/23/2024

12/12/2024

12/09/2024

12/05/2024

12/01/2024

11/22/2024

Address

Telephone

Website

Alerts

Contact The Organization

Shortcuts

Share

Category