CASK Research

01/09/2026

⭐ All donations are being matched by an anonymous donor ⭐

If you've been meaning to donate to CASK Research then now is the time!

👉 Donate here: https://www.justgiving.com/page/cycling-nowhere-to-get-us-everywhere

Shop manager to cycle 200km inside his own Londis to raise money for local charity 🚲

31/08/2026

Research should answer the questions that matter most to families. 💜

That’s why CASK Research, together with the Patient Led Research Hub, conducted a global survey asking parents and caregivers to rank the areas of CASK research they believe should be prioritised.

47 people took part — and the results showed a strong and consistent alignment across the CASK community.

The highest-ranked priorities were:

🗣️ Communication — both verbal and non-verbal
🌱 Long-term outcomes — including independence, life expectancy and regression
💜 Quality of life
🧑‍🦽 Mobility and movement

These findings give researchers, funders and organisations a clearer picture of what matters most to the people living with CASK-related disorders.

We are delighted to now publish the full findings on our website.

Because research should be driven not only by what is scientifically possible, but by what matters most to families.

Check it out on our website 👉 https://caskresearch.org/our-publications

25/08/2026

Our new website was recently updated with new research.

Check it out now at Https://caskresearch.org

17/08/2026

❓ Did you know that the global CASK registry gives us updated data on our children every THREE MONTHS?

👉 RARE-X gives us answers on common symptoms and rare symptoms so you know what to expect, when to be concerned and what to worry that little bit less about.

📃 Register now to keep us learning more and more about our children.

If you are registered already then THANK YOU and please don't forget to log on and update surveys.

https://rare-x.org/cask/

12/08/2026

IF GENE REPLACEMENT DOESN'T WORK FOR YOUR CHILD, WHAT THEN?

🙏 We all want gene therapies to succeed.

But hope for one treatment should never mean giving up on every other possibility.

❓ What if your child's particular mutation:

• responds poorly to gene replacement?
• needs a different level of CASK expression?
• causes a problem that isn't solved simply by adding normal CASK?
• could instead be rescued with a drug?
• could respond to a completely different genetic approach?

❓Who is researching those possibilities?

⭐CASK Research Foundation is⭐

We are supporting research specifically focused on understanding CASK missense mutations and finding ways to restore the function they disrupt.

🙏 Because every CASK child deserves a treatment strategy that works for their mutation.

And we won't know what that strategy is until we do the research.

You can donate directly to this programme:
https://cafdonate.cafonline.org/30965 #!/DonationDetails

🔗 Or find the link in our bio

💗 Support CASK missense research.

10/08/2026

🎉 Exciting research opportunity for families of boys with CASK missense mutations! 🎉

We're delighted to be working with the University of Southampton on an exciting new research project led by experienced CASK researcher Dr Acuna.

👉 The team will create iPSC (stem cell) lines from boys with CASK missense mutations (the genetic report will have a > in it with a letter either side e.g. A>G). These cells can then be used to understand how each mutation affects the body and to test whether any existing licensed medicines improve how the cells function.

⭐ This is called PERSONALISED DRUG SCREENING and is an exciting step towards personalised medicine ⭐

💰 At the moment, joint funding allows Southampton University to create cell lines for just three pre-chosen patients. We know there may be other families who would also like this opportunity, so we've made the difficult decision to offer families the option of funding their own cell line if they wish.

💙 The cost is £5,000 per patient ($6757, €5850).

While this is a significant amount, creating a cell line is a lasting investment in CASK research. Once created, it can be shared with researchers around the world, including CASK Coalition projects in Australia and Luxembourg, turning cell lines into brain organoids. Dr Acuna will continue applying for grants to carry out personalised drug screening on each new line as funding becomes available.

🚨 We want to stress that research cannot guarantee a treatment will be found. However, every new cell line helps researchers better understand CASK and brings us another step closer to future therapies.

All variants will be assessed to confirm they are suitable for personalised drug screening.

👉 If your son has a CASK missense mutation and you'd like to find out more, obligation free, please email us at [email protected].

We also want to stress that it is financially impossible for our charity to create cell lines of every child's mutation and this is why we are offering the opportunity to self fund.

Please feel free to share this post with anyone who may be interested. 💜

10/08/2026

For families looking for a curative treatment/gene therapy - CASK reactivation may hold the key. $45,000 is easily achievable. The cell data says it is possible. The media is saying this technique is the future of X-linked diseases like MICPCH.

If you are in the US, we highly recommend you support this fundraiser. Good luck CURE CASK USA!

*CASK GENE REACTIVATION IS POSSIBLE*
The Next Step Towards Gene Therapy Starts Now.

Phase 1 delivered promising results. Now we need your help to complete the next steps.
Phase 1 of this important research has produced a significant and encouraging result: researchers in the Fink and Halmai laboratories at UC Davis have demonstrated that reactivating the healthy copy of the CASK gene in human brain cells is possible.

Now we are progressing to Phase 2

Cure CASK USA has already awarded $70,945 to support the establishment of the CASK mouse colony. Professor Jill Silverman’s team received the mice from JAX Laboratories and began building the colony in June 2025. Our mouse colony is progressing well!!!!

Our next fundraising target
We are now raising funds to study behaviour, brain activity, seizures and sleep in CASK mouse models, and to connect these findings with results from human brain cells.
By combining behavioural testing with EEG, researchers can better understand how CASK affects brain function and identify measurable outcomes that may help determine whether reactivating the healthy copy of CASK leads to meaningful improvement.
Fundraising target: $105,000
Raised so far: $60,000
Still needed: $45,000

We believe families and donors deserve to know exactly where their funds are going. Every donation received towards this campaign will directly support these identified research tasks and the next stage of this therapeutic program.
Please help us raise the remaining $45,000.

Together, we can move this research from promising laboratory findings towards better understanding, better measurement and, ultimately, the possibility of a future treatment for females living with CASK-related disorders.
Every step is clear. Every contribution has a purpose. Every donation moves the research forward.
www.curecask.com

05/08/2026

If you buy office supplies such as ink and toner, computing equipment, or if you regularly travel for work, did you know you could be raising FREE money for CASK Research at the same time?

When you go through to shop with big business retailers like Viking, Staples, Dell, Apple, Trainline, Travelodge, Euroffice and many more, when you make a purchase these brands will give us a FREE donation, at no extra cost to yourself! We’d really appreciate your help so please sign up to support us at: https://www.easyfundraising.org.uk/causes/cask-research/?utm_source=facebook&utm_medium=social&utm_campaign=pmc&utm_content=fb-5

04/08/2026

In September a new PhD is starting at the University of Portsmouth, led by Dr Cayuso and funded by the university bursary programme. This Royal Society Grant, of £30,000, will help pay for the consumables needed in the first year of the project. We are grateful to Dr Cayuso, the University of Portsmouth and to the Royal Society for enabling this important research into CASK-related disorders.

Studying our ultra-rare disorder in fish models is another step towards understanding the mechanisms of the disease better and finding treatments for children like Sarah, aged nine, who lives near Portsmouth and whose mother founded our charity.

Portsmouth’s Express FM University of Portsmouth The News, Portsmouth

02/08/2026

🎂 Got a birthday coming up in August? Why not turn your special day into something truly meaningful by creating a Facebook Birthday Fundraiser for CASK Research?

Instead of gifts, ask friends and family to make a donation to help fund vital research into CASK gene disorders and bring hope to affected families. What better way to celebrate CASK Research's very own Sarah Willow's birthday this month too? 🎉

Every pound raised makes a difference and together we can help drive research towards better treatments and, one day, a cure. 💜

Set up your fundraiser today and make your birthday count!