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Aiuto alle famiglie · Informazioni
CASK Research mira a informare e responsabilizzare le famiglie fornendo informazioni utili e favorendo un dialogo aperto tra le famiglie e gli operatori sanitari e i ricercatori. Iscriviti per ricevere e-mail sui prossimi eventi.
Nel 2024 abbiamo organizzato il nostro primo incontro online delle famiglie CASK. Cinquanta famiglie hanno partecipato per ascoltare gli esperti del settore parlare dei disturbi CASK e rispondere alle nostre domande. Vi invitiamo a guardare le registrazioni per ascoltare cosa dicono neurologi, pediatri e genetisti sui disturbi CASK. Siamo stati inoltre entusiasti di avere con noi l'Università di Cambridge, che ci ha fornito i dati preliminari del proprio studio sul CASK, e RARE-X, che ci ha aggiornato sul registro globale 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.