David Cunnington
SCN2A InsightsEpisodes
Episodes of SCN2A Insights
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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 transitio
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 c
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 D
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-wo
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
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 u
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 hig
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 Bar
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 the
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 Le
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,
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
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 P
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, pa
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 A
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 Cente
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 an
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
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 o
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
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 Da
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
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 colla
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
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
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