Global Genes connects, empowers and inspires the rare disease community and fosters collaboration between groups from around the world.
Having a child with SCN2A can have a significant impact on the whole family. Three parents tell their stories about having a child with SCN2A.
Mutations of the SCN2A gene can result in a range of different clinical syndromes. Understanding these clinical presentations can help to guide treatment.
What are the needs of families when their children with genetic epilepsy become unwell? Kris Pierce discusses the outcome from a recent roundtable.
What is the relationship between loss of function SCN2A mutations and autism? What can SCN2A mutations teach us about mechanisms underpinning autism?
Why are models needed to assess and develop treatments in rare diseases? What types of models are there? When are different models used?
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.
This year has been a big year in autism research, with advances in understanding the biology of autisum using models such as organiods.
What should you expect when you attend a genetic epilepsy clinic? What happens when you need to transition from paediatric to adult care?
Antisense oligonucleotides (ASOs) are being developed as treatments for rare genetic disorders such as SCN2A. What are they and how do they work?