Understanding SCN2A Through Stem Cell Research | A Conversation with A/Prof Snezana Maljevic

Описание: In this episode, we speak with Associate Professor Snezana Maljevic, Group Lead of the Epilepsy Functional Genomics Group at the Florey Institute of Neuroscience in Melbourne, about her groundbreaking stem cell research into SCN2A-related neurodevelopmental disorders.
What you'll learn:

How stem cell models are helping researchers understand the differences between gain-of-function and loss-of-function SCN2A variants
Why developmental changes from SCN2A mutations begin much earlier than previously thought
The surprising role of SCN2A in both excitatory AND inhibitory neurons
How understanding affected pathways could lead to new treatment targets beyond just correcting SCN2A itself
The future of precision medicine approaches including antisense oligonucleotides (ASOs)

Key takeaway: SCN2A is increasingly being recognised as a developmental gene—affecting brain development from its earliest stages. This helps explain why patients experience not just seizures, but also autism, intellectual disability, and other neurodevelopmental challenges.
A/Prof Maljevic discusses her lab's work identifying the pathways disrupted by SCN2A mutations, with the goal of finding new therapeutic targets that could improve outcomes for affected individuals.

A Prof Snezana Maljevic, PhD – Associate Professor & Group Lead, Florey Institute of Neuroscience and Mental Health, Melbourne

A Prof Snezana Maljevic is a molecular neuroscientist and ion channel physiologist with expertise covering cell biology, electrophysiology, and molecular biology approaches, focusing on the functional studies of ion channels and other genes in epileptic disorders. Snezana was born in Belgrade, Serbia, where she studied Molecular Biology and Physiology. She moved to Germany in 2000, where she completed her PhD at the University of Ulm in 2005, followed by postdoctoral training and Junior Group leader status at the Hertie Institute for Clinical Brain Research in Tübingen. In 2015, the Australian Government awarded Snezana an Endeavour Research Fellowship, which allowed her to spend six months at The Florey Institute, which ultimately led to her recruitment at the Florey in 2016.

Snezana’s research into the functional consequences of ion channel variants associated with different forms of epilepsy has increased our understanding of disease mechanisms and helped employ precision medicine approaches in treating epilepsy. In addition, she has been involved in identifying and analysing several major epilepsy genes. Her research vision is to develop induced pluripotent stem cell-derived disease models to deepen our understanding of disease mechanisms and lead to novel, effective treatments for patients with epilepsy and related disorders.

#SCN2A #Epilepsy #RareDisease #StemCellResearch #Neuroscience #GeneticEpilepsy #DEE #PrecisionMedicine #FloreyInstitute #GETA