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Investigação
A CASK Research é uma pequena instituição de caridade com impacto global. A nossa missão é simples: acelerar a investigação sobre as doenças CASK e garantir que cada doação traga o maior benefício possível às crianças afetadas e às suas famílias.
Orgulhamo-nos não só dos projetos de investigação que financiámos, mas também da investigação que ajudámos a concretizar sem utilização de fundos de caridade. Recorrendo aos nossos conhecimentos científicos e à nossa rede de contactos, identificamos investigadores de renome com experiência nas áreas mais relevantes para a comunidade CASK. Muitos nunca tinham-se deparado anteriormente com as doenças CASK. Apresentamos-lhes a doença, partilhamos as prioridades das famílias e encorajamo-los a aplicar os seus conhecimentos especializados na investigação relacionada com a CASK.
Esta abordagem permitiu-nos gerar mais de 100 000 libras esterlinas em atividades de investigação sem financiamento direto, permitindo que os nossos recursos limitados rendam mais e criando oportunidades que, de outra forma, talvez nunca tivessem existido.
Led by Professor James Hodge. CASK fly models studying the cellular mechanisms of CASK, identifying possible treatment avenues. Long-term goal: a cheap, efficient drug-screening platform. Funded by CASK Research Foundation. This project requires more funding.
The labs at The University of California, Davis, have been working on a therapy to target the root cause of MICPCH — the lack of CASK protein. CASK reactivation aims to activate the silenced healthy CASK gene which is found in the brains of females with the disorder. The CASK Coalition reached the funding target in early 2024 and the team at UC Davis completed their study in March 2026. They successfully activated the healthy CASK gene in brain cells — bringing us closer to a game-changing gene therapy for girls with MICPCH.
Led by paediatric neurologist Dr Sam Amin. A UK-wide clinical registry and CASK biobank to better understand prevalence and systematically collect clinical and biological data. Families will be invited to contribute samples (blood/saliva) to enable biomarker discovery — crucial for tracking disease progression and assessing treatment effects in trials.
A PhD starting in October 2026 led by Dr Cayuso. The project will generate novel zebrafish models using CRISPR/Cas9 genome editing and uncover how CASK mutations lead to neural and craniofacial defects by studying the behaviour of different cell types during brain development. Funded by the University of Portsmouth.
Led by Dr Karen Low, the GenROC study hopes to improve understanding of how rare genetic syndromes affect the way children grow, their physical health and their development. It also aims to work with parents to understand new ways clinicians and parents can work together to improve their knowledge (such as through social media). This study looked at the real-life experiences of children in the UK who have a CASK gene mutation. Parents shared detailed information about their child's development, health, behaviour, education, and how caring for their child affects family life. Doctors also provided clinical information. This study is awaiting publication.
Following a publication by Dr Tabuchi, CASK Research is exploring how to translate this knowledge into treatment. Dr Tabuchi discovered that JNK-IN-8 prevents cell death in certain brain cells in mice artificially lacking CASK. JNK-IN-8 itself isn't a drug candidate, but CASK Research has identified compounds with existing safety profiles and licenced drugs that could be repurposed. These have been tested in vitro and the team is exploring next steps. To financially support Dr Tabuchi's work, email [email protected].
Dr Felix Chan is studying CASK's role in mitochondria in the context of neurodevelopment. An under-researched area — knowledge of how CASK mutations impact mitochondria (the powerhouses of cells) could lead to targeted therapeutics with broad symptomatic impact.
Comparison of 31 children/young people from the BINGO project at Cambridge with 151 previously reported cases — patterns in developmental outcomes, potential predictors of severity, areas needing further research. THIS STUDY IS NOW COMPLETE and published.
In 2022 our founder Laura Hattersley advocated for greater focus on epilepsy in CASK. Motivated by her daughter's prolonged diagnostic journey and multiple misdiagnoses, she approached Dr Asim Shahid at New York-Presbyterian Brooklyn Methodist Hospital. Dr Shahid pledged his support and has since initiated a US study focused on identifying biomarkers for epilepsy in CASK. A French team supported by Association Enfants CASK France is developing a complementary study. Together these efforts represent important progress towards better understanding, diagnosing and treating epilepsy within the CASK community.
Dr Mingshan Xue (our scientific advisor) is developing a gene replacement therapy for MICPCH. It aims to give patients' cells a healthy copy of the CASK gene, addressing the root cause of the disorder. Dr Xue was inspired to work on CASK disorders after meeting a patient many years ago. If successful, this therapy could significantly improve development and quality of life for affected individuals. Dr Xue was recently a recipient of the Oxford-Harrington Rare Disease Scholar Award Programme.
Professor Mukherjee is researching a drug that may prevent cerebellar degeneration due to CASK loss and may improve quality of life for affected children. Work from the lab suggests CASK is not only critical for information transfer in the brain — it's also a key regulator of brain metabolism. Without proper CASK function the brain cannot keep up with the normal rate of growth after birth. Funded by CASK Coalition partners CURE CASK.
Em conjunto com os nossos parceiros na Coalizão CASK, estamos a trabalhar para um futuro em que os tratamentos eficazes para as doenças CASK se tornem uma realidade.
O nosso Roteiro Global reflete um compromisso comum com a colaboração. Com tão poucos doentes em todo o mundo e ainda tanto por aprender sobre a CASK e o seu papel no desenvolvimento humano, só será possível alcançar progressos trabalhando em conjunto em vez de separadamente.
Cada passo em frente é reforçado pelo esforço coletivo. Explore o roteiro e descubra como a Coligação CASK global está a reunir conhecimentos especializados, recursos e determinação para acelerar o caminho rumo aos tratamentos.
Estudos de investigação em curso e concluídos na Coalizão CASK a nível mundial.
| Nome do estudo | Descrição | Instituição | PAG Associado | Data de início | Estado |
|---|---|---|---|---|---|
| Developing translational research platform | Creating CASK fly models and iPSCs to study cellular mechanisms and screen drugs | University of Bristol |  | 02-Sep-24 | In progress |
| Cure CASK i | Xi activation on iPSCs | University of California, Davis | | 08-Jan-24 | Completed |
| Cure CASK ii | Xi activation on mouse models | University of California, Davis |  | 05-Jun-25 | In progress |
| A drug to prevent cerebellar degeneration in MICPCH | Preclinical study of a FDA approved molecule | University of Alabama | | 08-Feb-22 | In progress |
| CASK patient iPSCs | Developing iPSCs for drug screening and to create brain organoids | University of Queensland | | 21-Jun-30 | In progress |
| Natural History Study | Clinical phenotype, including epilepsy | Assistance Publique Hopitaux de Paris |  | 01-Sep-25 | In progress |
| Quantitative interactomics | Assessing the involvement of CASK in NDDs | French National Centre for Scientific Research | | 24-Jun-30 | In progress |