Every year, one in seven babies are born with seizures, developmental delays, or the risk of early death due to genetic changes that disrupt brain development.
Despite advances in identifying the genes involved, most of these children face a lifetime without effective treatments, leaving families with heartbreak and uncertainty.
A breakthrough technology called antisense oligonucleotides (ASOs) is offering new hope. These genetic therapies, already proven safe and effective in other diseases, have the potential to transform outcomes for children with rare and devastating brain disorders. By targeting the root cause of these conditions at the genetic level, ASOs could provide treatments where none currently exist.
At present, children with conditions like PCDH19 clustering epilepsy, a severe form of epilepsy that primarily affects girls, and TIMMDC1 neurodegenerative disorder, a rare and life-limiting disease, have few, if any, treatment options. Families are left with no therapies that can truly change their child’s future, compounding the distress of these diagnoses.
The WCH Foundation is proud to support Professors Jozef Gecz and Paul Thomas, along with their multidisciplinary team, in their groundbreaking research to develop ASO therapies for these conditions.
Their work will test new ASO therapies in models that reflect how these diseases affect children, identify safe and effective doses to give children the best possible chance of benefit, and build a treatment pipeline that could be applied to many other rare childhood brain disorders in the future. This research represents a critical step forward in the fight against rare genetic brain disorders, offering families the possibility of treatments that were once unimaginable.
“The donors who make this possible are just phenomenal. I’m eternally grateful to everyone who donates to health and medical research, because in one way or the other, it comes back to all of us.” – Professor Jozef Gecz
Find out more about the research we support, here.
