Speaker : 

Professor Steven Petrou

Director, Florey Institute of Neuroscience and Mental Health, Parkville, VIC

Title: “Precision medicine in genetic epilepsies: Are we there yet?"

Developmental epileptic encephalopathies (DEE’s) are severe early onset disorders encompassing refractory seizures, movement disorders, developmental delay and intellectual disability. The estimated frequency of devastating early onset epileptic disorders is 1 in 2000 births.  The combination of severe neuropsychological phenotypes observed in affected children accounts for an estimated burden of the disease of > $10,000,000 for affected families (lost income, modifications house and home) and for government (early education, schooling, welfare, health costs, supported accommodation, respite care, and transport subsidies) and there is clinical urgency for the development of better therapies. In recent years, trio based sequencing efforts have revealed de novo variants in about 40 genes as the genetic cause of the disease providing new opportunities for disease mechanism targeted intervention.  After decades of development, anti-sense oligonucleotide (ASO) based therapies are beginning to deliver clinical results.  Spinraza for spinal muscular atrophy hit the market several years ago and is having a profound impact on patients lives.  Other ASO based therapies across a range of indications are in development underscoring their readiness in precision medicine.  In this seminar I will discuss how ASOs are primed to deliver breakthrough therapies for DEE patients.
 
 

About Neuroscience Seminars

Neuroscience seminars at the QBI play a major role in the advancement of neuroscience in the Asia-Pacific region. The primary goal of these seminars is to promote excellence in neuroscience through the exchange of ideas, establishing new collaborations and augmenting partnerships already in place.

The scheduled QBI Neuroscience Seminar series are held on Wednesdays from 11am-12pm in the Level 7 Auditorium of the Queensland Brain Institute, Building 79, St Lucia Campus, The University of Queensland. Additional seminars may be held at other times as listed below.

 

Neuroscience Seminars archive 2005-2018