Rare Disease Day 2024

Rare Disease Day 2024

A photo of the Spinnaker tower lit up in colours for Rare Disease Day 2024

The Portsmouth iconic landmark, the Spinnaker Tower, was lit up for Rare Disease Day by CASK Research UK. Our founder Laura had a busy day, spending the afternoon at the Palace of Westminster at the Rare Disease Day reception and then launching the online premier of the new documentary ‘Life with CASK’. She then headed down to Portsmouth with her local councillor Charlene Maines to view the Spinnaker Tower in person.

X Reactivation Study funding complete!

Following the incredible success of an online fundraiser by one of our community members, the CASK Coalition’s first CURE CASK project is complete! Baby Tenley turned 1 this January and her parents used the occasion to create a fundraiser to help raise funds towards CURE CASK. They raised an impressive $35,000, which was more than enough to provide the remaining funds needed. We thank Tenley’s family and supporters from the bottom of our hearts. The CASK Coalition has therefore successfully raised all the funds for the Fink Lab at UC Davis, USA, to study X reactivation of the CASK gene in stem cells. This will provide enough data to 1) see whether it is possible to activate the silenced CASK gene using gene technology and 2) enable the team to apply for larger grants to move the project forwards towards a viable therapeutic for our children. This project highlights the strength of individual CASK non-profits working together with a common aim. The CASK Coalition is truly accelerating the path to a cure. Read more about this research project here.

First pilot grant awarded

First CASK pilot grant awarded

A cartoon image of a superman with a fly head
We’ve just awarded a £25,000 pilot grant to Professor James Hodge at Bristol University.  Since 2003, Professor Hodge has been dedicated to a CASK quest, and it’s high time his dedication reaps rewards!
In partnership with Dr. Ben Housden from Exeter University, they’re creating something spectacular – a robust fly model for CASK research.
These flies are transforming into our miniature heroes by unraveling the CASK gene and developing treatments for CASK gene disorders. These winged crusaders will help us decipher the enigma of the CASK gene and hopefully lead us to affordable drug screening methods. Intriguingly, when these flies lose their CASK gene, they exhibit symptoms akin to humans with CASK disorders. But, when we insert the human CASK gene into them, they miraculously recover!
We’re thrilled to fortify our partnership with Bristol University and pave the way for more pioneering research.  
If you’re keen on backing superhero flies and brilliant minds, come aboard this exciting journey. Your contribution could be the crucial support these heroic flies need!

Sparkles For CASK

Sparkles for CASK

An photo of a young girl with CASK dressed for winter with the words Sparkles for Sarah written around her

This Christmas we invited families around the country to raise awareness of our rare disease. 

We currently have two trails running called ‘Sparkles for Sarah’ in honor of 6 year old Sarah who has MICPCH. Follow the Facebook pages for the Rowlands Castle and the Comberbach trails.

A Living Advent Trail is when a community decorates 24 windows for advent, unveiling a new one every day in the run up to Christmas day.  Check out our Raising Awareness page for this inclusive event that will have everyone talking about CASK this Christmas. 

UK CASK meet up 2023!

Nine families in a line smiling at the camera

At the beginning of September eight families with a child with a CASK disorder met at Camp Mohawk, near Reading. It was a hot and sunny day and the families made the most of the incredible grounds and cool indoor spaces. Everyone loved meeting the newest addition to the the ‘club’, who, at nine months old, definitely received the most cuddles. The siblings enjoyed the soft play and outdoor entertainment whilst the parents had the chance to catch up with old friends, meet new ones and compare stories and ideas. CASK Research Foundation is passionate about helping families living with CASK disorders, and, although science is vital, peer support is just as important, if not more so, for day-to-day living.

Special thanks goes to CAMP Mohawk for their hospitality and The Park, for covering all expenses.

The CASK living advent trail

Get ready for a sparkling fundraiser this Christmas

Organise your own living advent trail this Christmas.

If you live in a friendly community and want to create a simple event to raise awareness of CASK whilst also bringing joy to every level of ability, then look no further!

A Living Advent Trail is when a community decorates 24 windows for advent, unveiling a new one every day in the run up to Christmas day. Our first one was called Sparkles4Sarah and created so much awareness and enjoyment we wanted to share the idea with all our supporters. We have a simple set of instructions for everyone who wants to create their own this Christmas.

Check out our Raising Awareness page for this fantastic, inclusive event that will have everyone talking about CASK this Christmas.

A photo of a living advent window

New Cambridge University Study

Are you interested in understanding the strengths and challenges of individuals with a CASK gene difference? Are you interested in exploring why your child might feel, act, learn, or communicate differently? So are researchers leading the BINGO project based at the MRC Cognition and Brain Sciences Unit, University of Cambridge. BINGO stands for Brain and Behaviour in Neurodevelopmental Disorders of Genetic Origin.

We need 10-20 participants NOW! Will you be one of them? Please read more here or register to take part here.

Advert for the BIngo project CASK Research

Open Gardens raises £5000!

Rowlands Castle open gardens raised an impressive £5000 in its first year. Over 500 tickets were sold and 14 gardens opened to the public.