“Precision medicine in genetic epilepsies: Are we there yet?"
Event Details
- Date:
- Wednesday, 30 October 2019 - Wednesday, 30 October 2019
- Time:
- 11:00 am - 12:00 pm
- Room:
- QBI Level 7 Auditorium
- UQ Location:
- Queensland Brain Institute (St Lucia)
- URL:
- http://www.qbi.uq.edu.au/neuroscience-seminars
- Event category(s):
Event Contact
- Name:
- Ms Deirdre Wilson
- Phone:
- 66300
- Email:
- d.wilson5@uq.edu.au
- Org. Unit:
- Queensland Brain Institute
Event Description
- Full Description:
- Professor Steven Petrou
Director
Florey Institute of Neuroscience & Mental Health, Parkville, VIC
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.
Directions to UQ
- Google Map:
-
- Directions:
- St Lucia Campus | Gatton campus.
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