SCN2A Insights

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 years or older can participate in this research by contacting Marlene Rong via marlene.rong@uhnresearch.ca You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. This podcast series is supported by an educational grant from Praxis Precision Medicines. Links:  Dr Andrade bio Dravet syndrome (SCN1A) transition guide Video on transition research for people aged 18+ To participate in current research contact Marlene Rong via marlene.rong@uhnresearch.ca See omnystudio.com/listener for privacy information.

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 the work they do, how they are trying to bridge the gaps in care, and provide tips for parents and carers of those with DEEs. You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Torie Robinson Epilepsy Sparks Podcast - Epilepsy Sparks Insights YouTube channel See omnystudio.com/listener for privacy information.

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 subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Information on Quality of Life Inventory-Disability (QI-Disability) Validation study of QI-Disability Want to help developing quality of life measures for children with genetic epilepsy? See omnystudio.com/listener for privacy information.

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 this process easier. A next-generation, digital Observational Study for SCN2A-related disorders is expected to facilitate: Informing clinical researchers how a disease changes over time Enabling better endpoint selection to use in clinical trials The connection between mutation types and symptoms to facilitate targeted therapies Reducing the time it takes to study new medicines in clinical trials Speeding up the time to get therapeutics to patients The use of data as a placebo (instead of actual patients) in a clinical trial This study will complement the International SCN2A Natural History and real-world evidence studies for SCN2A-related disorder patients. Become a Ciitizen and help advance research and accelerate treatments by clicking here! Please note that this is only available in the US however Ciitizen plan to expand globally starting in April. Links: Ciitizen Webinar on Ciitizen hosted by FamilieSCN2A Foundation See omnystudio.com/listener for privacy information.

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 Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Sleep in children with autism spectrum disorders – Review article by Amanda Richdale Sleep wake rhythms in adults with autism spectrum disorders – Research by Amanda Richdale Raising Children – Website Solving Sleep Problems in Children With Autism Spectrum Disorders – Book See omnystudio.com/policies/listener for privacy information.

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. You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Simons Searchlight Simons Foundation See omnystudio.com/policies/listener for privacy information.

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. You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  SFARI Simons Foundation Podcast on Kevin Bender's research See omnystudio.com/policies/listener for privacy information.

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 podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Angel Aid Genetic Epilepsy Team Australia conference See omnystudio.com/policies/listener for privacy information.

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 Strategy for the Lennox-Gastaut Foundation.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Lennox-Gastaut Foundation

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 listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Syndromes Without a Name (SWAN) Learning at home during a time of crisis - Australian Coalition for Inclusive Education Learning from home - information for parents from Victorian Department of Education

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 subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Syndromes Without a Name (SWAN) Beyond Blue - Coronavirus pandemic resources This Way Up - online mental health courses

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 genetic epilepsy and DEEs and their families.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links: Genetic Epilepsy Team Australia SCN2A Australia Information on COVID-19 from Australian Dept of Health Coronacast - daily podcast on COVID-19 Social distancing and COVID-19

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 Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Links: Global Genes RARE Drug Development Symposium RARE Patient Advocacy Summit

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 Insights on Spotify, and Google Podcasts or in your podcast app. Audio Timeline / Chapters: 00:00 - 00:47 Introduction 00:47 - 22:02 Angie 22:02 - 35:27 Nicolas 35:27 - 46:52 Kris 46:52 - 48:29 Summary Links: Mighty and the Bean SCN2A Europe 

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 discusses the outcomes of the roundtable and plans for the future. 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 Insights on Spotify, and Google Podcasts or in your podcast app. Links Genetic Epilepsy Team Australia Genetic Epilepsy Clinics - podcast episode

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. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Links A Prof Kevin Bender - USCF Center for Integrative Neuroscience Story on CRISPR Activation research 

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 review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Links Dr Snezana Maljevic - The Florey Brain in a Dish - talk by Dr Maljevic

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 review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app Links Dr Scott Perry - Cook Children's Hospital Dr Scott Perry - Twitter Article on establishing adult genetic epilepsy clinic

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 subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app Links American Epilepsy Society meeting Summary of ASO presentations at AES Dr Ana Mignorance - @CNSDrugHunter on Twitter Ionis  Webinar on ASO treatment for gain of function SCN2A

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, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts.  Links:  Australian Genomics Health Alliance - genomics info Human Disease Genes - website series Rare chromosomes and gene disorders (Unique) Paediatric Epilepsy Network NSW (PENNSW) - epilepsy information for families and clinicians Talk at Genetic Epilepsy conference (GETA 2019) - video  Parental mosaicism in 'de novo' epileptic encephalopathies - journal article

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 has SCN2A. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app Links:  Sleep in children with special health care needs – Research article Monash Childrens’ Sleep Centre Talk by Margot Davey on managing sleep in genetic epilepsies – video from 2hr41min to 3hr 16min

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 review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app Links:  CURE Epilepsy  Epilepsy Genetics Initiative (EGI)  Sudden Unexpected Death in Epilepsy (SUDEP)

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, state-of-the-art care to all patients. 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 Insights on Spotify, and Google Podcasts or in your podcast app Links:  Epilepsy Precision Medicine Conference – Washington DC Sept 16-17, 2019 Prof Lowenstein’s UCSF profile Prof Lowenstein’s clinical profile

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 epilepsies. 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 Insights on Spotify, and Google Podcasts or in your podcast app Links:  Praxis Precision Medicines Antisense oligonucleotide therapy for gain-of-function SCN2A epilepsies Natural History Study – podcast on SCN2A natural history study

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 epilepsies.   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 Insights on Spotify, and Google Podcasts or in your podcast app Links:  RogCon Antisense oligonucleotide therapy for SCN2A gain-of-function epilepsies – poster presented at AES 2018

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 international SCN2A Natural History Study. 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 Insights on Spotify, and Google Podcasts or in your podcast app Links:  SCN2A Encephalopathy –   2015 Genetic and phenotypic heterogeneity in SCN2A – 2017 (Marcus Wolff) Email to register interest in participating in natural history study

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 David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app Links:  Sodium channel gene defects (SCN2A) and seizures – 2002 Channelopathies as causes of genetic epilepsy – 2003 SCN2A mutations in 2 families – 2007 SCN2A Encephalopathy –  2015 Genetic and phenotypic heterogeneity in SCN2A – 2017 (Marcus Wolff) Gain vs loss of function – 2018

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.