SCN2A Insights
SCN2A Insights
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.Social links:
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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 transition guides and her ongoing research hopes to help furthe…
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Living With Epilepsy
Advocating for people with epilepsy and increasing epilepsy awareness are passions for Torie Robinson, founder and CEO of Epilepsy Sparks. Torie's lived experience and experience as an advocate and spokesperson gives her great insights in to care needs for people with epilepsy. In this insightful…
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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. To help understand what outcome measures are and why they are important to spoke to Dr Jenny Downs, Program Head of Disability Research at the Telet…
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Ciitizen
Ciitizen's mission is to empower seven billion citizens across the planet with all of their health data. When you control your data, you have more options. For your own care, and to advance research for others. Observational Studies and real-world evidence are critical to the drug development proc…
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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. You can listen to…
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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 Searc…
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SFARI
Launched in 2006, SFARI is a scientific initiative within the Simons Foundation's suite of programs. SFARI’s mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.To better understand the wor…
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Angel Aid
Angel Aid provides relief for mothers of children with rare disorders, helping them learn tools of self-care, and be listened to without judgement. To better understand the issues facing carers and the work of Angel Aid, we speak to Cristol Barrett O’Loughlin Founder and CEO of Angel Aid. You can…
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Lennox-Gastaut Syndrome
Lennox-Gastaut syndrome (LGS) is an epilepsy syndrome that can develop over time from childhood seizures that remain uncontrolled by treatments. It's common for children with genetic epilepsy to develop LGS which can then further exacerbate their symptoms. To better understand LGS, we speak to Dr T…
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Supporting Children
The global coronavirus pandemic has brought significant challenges for us all, but particularly for children with developmental and epileptic encephalopathies. In this episode of SCN2A Insights we are joined by Heather Renton of SWAN and Sue Lenzi, Mental Health Social Worker to discuss how to hel…
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