Видео

Director, Ursula Reyes presents the impact Elsunersen has had on her daughter, Eva's life. Quotes from presentations: “Going through this experience with Eva and seeing the changes that this ASO has created in our life has made such a huge impact not only for her but also for us as a family. We can now do more things as a family, as she can enter environments that once were challenging for her ...

Watch a recent presentation by Marcio Souza, CEO of Praxis Precision Medicines provides an update of the Prax 222 (elsunersen). This ASO program for Gain of Function presentation has been dosed in 5 patients now with initial results looking promising. #SCN2A #cureSCN2A #ASO #raredisease

The EMBOLD study - PRAX-562

This video gives a brief overview of what clinical trials are. While made specifically for families who have a child with an SCN2A-related condition, it is generic and is applicable to many conditions.

This video provides a short overview of what SCN2A is - covering the basics of genetics, to breaking down the difference between Gain of Function and Loss of Function. This video was developed for SCN2A Asia Pacific, and sponsored by Praxis Precision Medicine. For more information, please visit scn2aaustralia.org/.

Kris Pierce presents at the Europe Conference

Dr. David Cunnington leads an engaging discussion with Dr. Katherine Howell about the International SCN2A Natural History Study.

Dr Emma Palmer discusses how to decipher your genetic reports - what should be included and what does it mean?

Suzanne is passionate about supporting families with a rare epilepsy diagnosis. She presents her research and the resources she has developed.

Prof Lynette Sadleir discusses how variants in genes such as SCN2A can lead to different clinical presentations.

Dr Michael Oldham and Devra Densmore discuss Praxis’ rare epilepsy pipeline, specifically for SCN2A including precision based approaches.

Jennifer Tjernagel outlines the work being done with the SCN2A Research Registry in Simons Searchlight.

In this session of the SCN2A Virtual Conference, esteemed Professor Ingrid Scheffer speaks to the importance of collaborating with families for successful treatment. With so many scientific breakthroughs in genetic epilepsies in recent years, how can we translate those findings into effective treatment? Professor Scheffer says closer engagement with families and communities is key.

SCN2A Phenotypes - Dr Katherine Howell

Loss of function gene mutations in SCN2A: Implications and opportunities for therapeutic interve...

Justin & Romina talk to us about Aaliyah's story.

Jasper's Story - told by Nick & Shannon Reilly

Eva's story - told by Ursula

Living with SCN2A