CASK Research UK

We are a charitable foundation promoting research into CASK gene mutations and associated neurological conditions in hope of finding therapies and treatments

[CASK Research UK @CASKResearch]

Thanks to the dedication and generosity of all involved, the CASK Coalition is thrilled to share that the first ever research into gene therapy for CASK with @ucdavis @finklab is set to commence in 2024! We are so grateful to the UC Davis team for this opportunity! #cureCASK

[CASK Research UK @CASKResearch]

📄 Our Annual Report is out! See how your support accelerates CASK research & helps families. 💙 From funding Bristol’s drug screening platform to launching the Kicking CASK podcast — every penny makes an impact. 👉 https://t.co/y02dI815YF

[CASK Research UK @CASKResearch]

"I'll be pushing Alice every mile of the way, for her, and for a future where others like her don't have to face this alone. We need to find something before it's too late." - Joanne Lee

You can support this amazing duo at https://t.co/OcDhsrD4Oo

https://t.co/fp6xYepCaM

[CASK Research UK @CASKResearch]

Tune in now!

YouTube
https://t.co/ffaXfVlo0Z

Spotify
https://t.co/0s5fKBcO4S

#caskgene #cask #rarediseasepodcast #podcast #caskmutation

[CASK Research UK @CASKResearch]

Personalise your social media profile picture today!

#caskgene #cask #kickingcask

https://t.co/iHgFZ2Gnge

[CASK Research UK @CASKResearch]

Thank you to everyone who donated to the Cure CASK campaign over the past few years. It's exciting to see the results coming in!
#hope
#caskgene #geneediting #epigenetics #curecask

[CASK Research UK @CASKResearch]

Register your interest via the QR code or here:
https://t.co/qUFVePXpFe

We already have five families taking part! With a few more families the researchers at University of Birmingham should be able to share some meaningful CASK-specific outcomes with our community.

#caskgene

[CASK Research UK @CASKResearch]

Listen on YouTube:
https://t.co/doOlTDSXRe

Listen on Spotify:
https://t.co/EePhkzdaEK

#rarediseasepodcast #podcast #raredisease

[CASK Research UK @CASKResearch]

#caskgene #neuro #geneticdisorder #cask #micpch #aspirebiosciences

[CASK Research UK @CASKResearch]

Our incredible @easyuk community has raised £15.49 for CASK Research this #DonationDay! Help continue our success by supporting us on @easyuk. Sign up & turn your online shopping at over 8,000 retailers into free donations: https://t.co/i3ado1yXzH

[CASK Research UK @CASKResearch]

12-18 May is Mental Health Awareness Week.

We recently conducted a mental health survey among our CASK community. Here is a snapshot of the results.

#MentalHealthAwarenessWeek #caskdisorders #community #StrongerTogether #RareDiseaseCommunity #caskcoalition

[CASK Research UK @CASKResearch]

Founder of CASK Research, Laura Hattersley, attended the GW4 Epilepsy meeting on Thursday, at the University of Bristol. She presented on the latest understanding of CASK-associated epilepsy, whilst the wonderful MRes student, Anya, presented her findings in Drosophila.

[CASK Research UK @CASKResearch]

A literature review of 151 patients as well as the recent Cambridge University study revealed that infantile spasms, generalised seizures, focal seizures and myoclonic epilepsies can all occur in our children. In addition, many individuals have more than 1 type of seizure.

[CASK Research UK @CASKResearch]

The Cambridge University study found that epilepsy was more common in individuals with MICPCH (53.85%)
than microcephaly only (33.33%).

Current ongoing studies into CASK and epilepsy will reveal more detailed information on this, so stay tuned!

#awareness #epilepsy #purpleday

[CASK Research UK @CASKResearch]

A study found that seizures are a significant predictor of adaptive ability in children with CASK.
Does seizure activity disrupt cognitive development in our children, or is that the individuals with more severe intellectual disability are more susceptible to seizures?

[CASK Research UK @CASKResearch]

A literature review which had data on 151 individuals revealed a prevalence rate for epilepsy of around 49%, whilst the recent Cambridge University study found similar.
Recent information from our data collection programme has the number at 44% (sample size 58) for seizures.

[CASK Research UK @CASKResearch]

🌟 Meet Mia! 🌟

Mia is living proof that a diagnosis does not define you ❤️

#caskwarrior #caskgene #caskresearch #caskmutation #micpch #microcephaly #developmentaldelay #kickingcask

[CASK Research UK @CASKResearch]

Read full press release https://t.co/YzdywmZfpG

#caskgene #caskresearch #bristoluniversity #cask #neuroscience

[CASK Research UK @CASKResearch]

https://t.co/xBzupYzrFD

https://t.co/fHNGU09Wk9

#roadmaptoacure #globalroadma #caskcoalition #roadmap

[CASK Research UK @CASKResearch]

We have been awarded £20,000 worth of probono support from Costello Medical!

This incredible support will help us:
Conduct longitudinal data analysis of RARE-X registry data

Create a compelling infographic to highlight key findings

Improve registry sign-ups

And more!

[CASK Research UK @CASKResearch]

https://t.co/w7NHKUcDTv