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.
Michael Oldham and Devra Densmore discuss Praxis' rare epilepsy pipeline, specifically for SCN2A including precision based approaches.
Professor Steven Petrou explains how mutations in the SCN2A gene can lead to loss of function, and how treatments could increase function.
Antisense oligonucleotides (ASOs) are being developed as treatments for rare genetic disorders such as SCN2A. What are they and how do they work?
Prof Steven Petrou and Dr Kiran Reddy discuss the RC-222 program developing an ASO treatment for gain-of-function SCN2A epilepsies.
Speakers: Prof. Steven Petrou, Director of the Florey and RogCon, Chief Scientific Officer, and Dr. Kiran Reddy, CEO of Praxis Precision Medicines. At the 2018 American Epilepsy Society meeting, Prof…
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.