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Apoio às famílias · Informações
A CASK Research tem como objetivo informar e capacitar as famílias, fornecendo informações úteis e promovendo um diálogo recíproco entre as famílias e os profissionais de saúde/investigadores. Inscreva-se para receber e-mails sobre eventos futuros.
Em 2024, realizámos o nosso primeiro Encontro Online das Famílias CASK. Cinquenta famílias participaram para ouvir especialistas nas suas áreas a falar sobre CASK e a responder às nossas perguntas. Por favor, veja as gravações para ouvir o que neurologistas, pediatras e genetistas têm a dizer sobre as doenças CASK. Ficámos também muito entusiasmados com a participação da Universidade de Cambridge, que nos forneceu os dados preliminares do seu estudo sobre CASK, e da RARE-X, que nos atualizou sobre o registo global de CASK.
Neurologist Dr Amin, clinical geneticist Prof Kutsche and paediatrician Dr Tuffrey answer questions from our families. Epilepsy management and diagnosis, prognosis of MICPCH and managing the more common symptoms of CASK-related disorders all feature in our expert Q&A.
The BINGO project brings together developments in genetics, psychology, and brain sciences. Jessica Martin and colleagues from Cambridge University are trying to understand the range of problems that affect individuals with CASK-related disorders. Here they discuss the preliminary findings and how results may be used to help our community.
Dr Pauline Berger talks to the CASK community about GENiDA. GENiDA stands for Intellectual Disability and Autism Spectrum Disorders. It is an international online participatory database that aims to better characterise the clinical manifestations and natural histories of certain diseases, including CASK. Find out why you should participate and how to take part.
An update on what we know about CASK disorders from patient-reported data gathered on the global RARE-X platform. This is followed by a guide on how to access RARE-X and become involved in this ongoing natural history programme.
Meet Professor Kerstin Kutsche who first described MICPCH in 2008. The webinar starts with a basic genetics tutorial and then answers questions from the CASK community. We recommend every parent of a child with MICPCH watches this unique and eye-opening webinar — it gives vital information on the care of our children and highlights the many areas in need of study. The Q&A begins at 29:40.