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.
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.
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.
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.
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.
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 work and current research of SFARI we speak to Dr John Spiro, Deputy Scientific Director of SFARI.
Angel Aid provides relief for mothers of children with rare disorders, helping them learn tools of self-care, and be listened to without judgement.