Выпусков: 28

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A.

SCN2A Insights SCN2A Australia

    • Наука

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A.

    Transition

    Transition

    Transitioning children with complex health needs such as those with SCN2A or other developmental epileptic encephalopathies is challenging.  Dr Danielle Andrade from University of Toronto has been instrumental in producing a number of guides to the transition process and her ongoing research hopes to help further improve the process of transition.

    • 21 мин.
    Living With Epilepsy

    Living With Epilepsy

    Torie Robinson's lived experience makes her a powerful advocate for improving care for those with epilepsy.

    • 35 мин.
    Quality of Life Measures

    Quality of Life Measures

    Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment beyond just measuring seizures.

    • 16 мин.
    Ciitizen

    Ciitizen

    Ciitizen is partnering with the SCN2A community and rare disease groups to empower patients and families with access to their health data and advance research.

    • 14 мин.
    Sleep in Autism

    Sleep in Autism

    Children, adolescents and adults with autism can have significant sleep problems. Trouble getting to sleep, waking at night and early morning waking are some of the most common. Prof Amanda Richdale, from LaTrobe University talks with us about why sleep problems occur in autism.

    • 13 мин.
    Simons Searchlight

    Simons Searchlight

    Simons Searchlight is an initiative of the Simons Foundation Autism Research Initiative (SFARI) that aims to better understand genetic neurodevelopmental conditions, specifically those associated with autism spectrum disorder (ASD). To better understand the work and current research of Simons Searchlight we speak to Jennifer Tjernagel, senior project manager.

    • 22 мин.

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