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.
Jennifer Tjernagel outlines the work being done with the SCN2A Research Registry in Simons Searchlight.
Professor Ingrid Scheffer speaks to the importance of collaborating with families for successful treatment.
Professor Steven Petrou explains how mutations in the SCN2A gene can lead to loss of function, and how treatments could increase function.
What are the observable traits, or phenotypes, present in SCN2A-related disorders?
Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment.
Ciitizen is partnering with the SCN2A community and rare disease groups to empower patients and families with access to their health data and advance research.