Podcast
Loss of Function & Autism
What is the relationship between loss of function SCN2A mutations and autism? What can SCN2A mutations teach us about mechanisms underpinning autism?
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Resources
Podcast
Models in Rare Diseases
Why are models needed to assess and develop treatments in rare diseases? What types of models are there? When are different models used?
News
Gene editing with CRISPR
What is CRISPR? How does it work? Is it ready for use in humans? Hear about CRISPR in this episode of the ‘Health Report’ podcast.
News
Hot topics in autism research in 2019
This year has been a big year in autism research, with advances in understanding the biology of autisum using models such as organiods.
Podcast
Genetic Epilepsy Clinics
What should you expect when you attend a genetic epilepsy clinic? What happens when you need to transition from paediatric to adult care?
Podcast
Antisense Oligonucleotides (ASOs)
Antisense oligonucleotides (ASOs) are being developed as treatments for rare genetic disorders such as SCN2A. What are they and how do they work?
Webinar
Developing Treatment for SCN2A
Prof Steven Petrou and Dr Kiran Reddy discuss the RC-222 program developing an ASO treatment for gain-of-function SCN2A epilepsies.
Podcast
Demystifying Genetic Testing
Genetic testing is complex. To decipher some of the terminolgy and help explain the process we talked to Dr Emma Palmer, Clinical Geneticist.
Podcast
Sleep in Children with Developmental Disabilities
Children with developmental disabilities can have touble with sleep. Assoc Prof Margot Davey discusses what can be done to improve sleep in these children.
Podcast
Citizens United for Research in Epilepsy (CURE)
CURE Epilepsy has raised more than $60 million to fund epilepsy research. We talk with Dr Laura Lubbers about the work CURE Epilepsy is doing.
Podcast
Achieve More by Working Together
Working collaboratively has been one of the hallmarks of Prof Daniel Lowenstein’s career and has led to breakthrough research.
Podcast
Developing Treatments for SCN2A
We talk with Dr Kiran Reddy about the plans for the RC-222 treatment program with the goal of developing a treatment for SCN2A gain-of-function epilepsies.
Categories
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I’m happy to announce that you’ll seen be able to listen to the amazing Kris Pierce, Founder of SCN2A Australia and Asia Pacific, mum to Will & Ella, Co-Founder at Genetic Epilepsy Team Australia - GETA, Rare & Genetic Epilepsy Lead at Epilepsy Foundation of Australia, Rare Global Advocacy Leadership Council at Global Genes, and SO much more (!) interview me for the SCN2A Insights podcast!![]()
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Sign up to their podcast here: open.spotify.com/show/6KrDEmN7XPh8oDR7zR48cy?si=hxYg4EHMSUaZmNluIvu6Dg&dl_branch=1 ![]()
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#epilepsy #raredisease #scn2a #rareepilepsy #genetics #neurology #neurophysiology #temporallobeepilepsy #disease ![]()
Epicare ERN EURORDIS - European Rare Diseases Organisation Epilepsy Action Australia Epilepsy Queensland Inc. HOPE Paediatric Epilepsy - London Epilepsy WA SUDEP Action: Making every epilepsy death count Epilepsy ACT Epilepsy Action International Bureau for Epilepsy Epilepsy Society