CASK Research UK @CASKResearch
We are a charitable foundation promoting research into CASK gene mutations and associated neurological conditions in hope of finding therapies and treatments caskresearch.org England, United Kingdom Joined June 2023-
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📄 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. 👉 caskresearch.org/wp-content/upl…
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"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 justgiving.com/page/curecask-… bbc.co.uk/news/articles/…
Tune in now! YouTube youtu.be/JpOhMutm8u0?si… Spotify open.spotify.com/episode/0k4jrD… #caskgene #cask #rarediseasepodcast #podcast #caskmutation
Personalise your social media profile picture today! #caskgene #cask #kickingcask canva.com/design/DAGp47q…
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
Register your interest via the QR code or here: bhampsychology.eu.qualtrics.com/jfe/form/SV_8G… 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
Listen on YouTube: youtu.be/ukajpAbSujs?si… Listen on Spotify: open.spotify.com/episode/1xyRSt… #rarediseasepodcast #podcast #raredisease
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: join.easyfundraising.org.uk/cask-research/…
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
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.
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.
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
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?
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.
🌟 Meet Mia! 🌟 Mia is living proof that a diagnosis does not define you ❤️ #caskwarrior #caskgene #caskresearch #caskmutation #micpch #microcephaly #developmentaldelay #kickingcask
Read full press release caskresearch.org/2025/03/17/cas… #caskgene #caskresearch #bristoluniversity #cask #neuroscience
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!
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