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 further improve the process of transition. People aged 18 y…

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 and personal conversation, Kris and Torie talk about…

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 Telethon Kids Institute in Perth. You can listen to and su…

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 process. Ciitizen has developed a new method to make thi…

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 and subscribe to the SCN2A Insights podcast via Appl…

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 proje…

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…

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 listen to and subscribe to the SCN2A Insights podcas…

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 Tracy Dixon-Salazar, Director of Research and Strate…

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 help children manage through the pandemic. You can list…

The global coronavirus pandemic has brought significant challenges particularly for those with 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 strategies for carers during the pandemic. You can listen to and su…

Want to better understand better how the COVID-19 pandemic may impact children and adults with genetic epilepsy and developmental and epileptic encephalopathies (DEEs)? Listen to these tips and information from Prof Ingrid Scheffer. This bonus episode of SCN2A Insights is produced by Genetic Epilepsy Team Australia for the benefit of those with gen…

Global Genes connects, empowers and inspires the rare disease community. To learn more about Global Genes' mission and the support they can give organisations around the world we spoke to Kimberly Haugstad, CEO of Global Genes. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcast…

Having a child with SCN2A can have a significant impact on the whole family. To mark International SCN2A Awareness Day on February 24th we interviewed three parents about having a child with SCN2A. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts. You can also find SCN2A Ins…

Families can find it challenging dealing with the healthcare system when children with genetic epilepsy and developmental epileptic encephalopathies are unwell. To help identify needs and plan towards improving services, Genetic Epilepsy Team Australia convened a roundtable including families, clinicians and researchers. In this episode Kris Pierce…

What is the relationship between loss of function SCN2A mutations and autism? How can studying SCN2A mutations teach us about cellular mechanisms underpinning autism? To help answer these questions we talk to A Prof Kevin Bender from UCSF Center for Integrative Neuroscience. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A…

Why are models needed to assess and develop treatments in rare diseases? What types of models are there? When are different models used? To help answer these questions we talk to Dr Snezana Maljevic from The Florey Institute for Neuroscience and Mental Health. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a revie…

What should you expect when you attend a genetic epilepsy clinic? What happens when you need to transition from paediatric to adult care? To help answer these questions we talk to Dr Scott Perry, Medical Director, Genetic Epilepsy Clinic, Cook Children's Hospital. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a r…

Antisense oligonucleotides (ASOs) are being developed as treatments for rare genetic disorders such as SCN2A. What are they and how do they work? To help gain a better understanding of ASOs and their role we talk to Dr Stanley Crooke, founder of Ionis. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and su…

Genetic testing is complex with many different types of tests, and a range of terms used to describe the results of test, particularly in areas such as genetic epilepsy where research is moving so quickly. To help gain a better understanding of genetic testing and the results we talk to Dr Emma Palmer. Hosted by Kris Pierce and David Cunnington, pa…

Children with severe developmental disabilities or autism often have difficulty with sleep which can not only impact on their sleep, but affect the whole family. To understand why this occurs and what can be done we talk to Assoc Prof Margot Davey from Monash Childrens’ Sleep Centre Hosted by Kris Pierce and David Cunnington, parents of Will, who h…

Citizens United for Research in Epilepsy (CURE) was founded in 1998 by parents of children with epilepsy. Since then CURE has raised more than $60 million to fund epilepsy research. We talk with Dr Laura Lubbers, Chief Scientific Offier of CURE, about CURE’s work. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a r…

Working collaboratively has been one of the hallmarks of Prof Daniel Lowenstein’s career. His passion for an inclusive approach has enabled him to bring together teams and achieve research results that would not have been possible without collaboration. In his clinical practice Prof Lowenstein is committed to providing well-explained, holistic, sta…

Taking a treatment from the laboratory in to clinical trials and then to becoming available for use is a complex and expensive process. We talk with Dr Kiran Reddy, President and CEO of Praxis Precision Medicines, about the plans for the RC-222 treatment program with the eventual goal of having a treatment available for SCN2A gain-of-function epile…

Having a child with SCN2A or other genetic epilepsy is challenging and the future is uncertain. When Alex Nemiroff’s son Roger was born, he was determined to work towards finding treatments for SCN2A. Alex is now the CEO of RogCon, which has a research program (RC-222) developing an antisense oligonucleotide (ASO) treatment for gain-of-function epi…

Natural History Studies (NHS) are important in understanding the natural progression of a condition. This information can then be used to predict what may happen in the future when children are diagnosed with genetic epilepsies, and are essential when planning trials of treatment. We talk with Dr Katherine Howell, the principal investigator of the …

Since the first publications linking SCN2A with severe genetic epilepsy, developmental encephalopathy and autism, research has progressed significantly. To help understand the progress made and where research is heading we talk with Prof Ingrid Scheffer who has published many key papers in SCN2A and genetic epilepsies. Hosted by Kris Pierce and Dav…

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. See omnystudio.com/listener for privacy information.By SCN2A Australia