Gene therapy provides hope for childhood dementia
Her two boys both have Niemann-Pick Disease type C (NP-C), a devastating and fatal genetic condition for which there are few treatments and no cure. The parents of children with this rare condition live with the painful knowledge that their child will decline physically and intellectually with a form of childhood dementia. Few survive for more than 10 years after first showing symptoms. Mandy’s boys were diagnosed 14 years ago.
Families like Mandy’s are why the Florey Institute, with the help of donors like you, is pursuing research that might offer hope to families with NP-C.
The Florey’s Dr Ya Hui Hung is investigating a potential treatment for this currently incurable disease by working closely with families and doctors treating patients with NP-C.
Dr Hung’s work has already contributed to the mapping of the metallobiology landscape and identified early neurological impacts in models of NP-C which may have clinical implications for humans. She is now researching a gene therapy approach using messenger RNA (mRNA) to correct the action of the faulty genes that cause NP-C.
In a Florey Public lecture in October 2021 Mandy and Dr Hung spoke about how they collaborate to fight Niemann-Pick Disease type C. Mandy gave personal insight into what it’s like having children living with this genetic disorder. She is the Founder, Vice President, Adult Patient Liaison and previous past President of the Australian NPC Disease Foundation (ANPDF), which supports parents and families with NP-C and raises funds for research.
Through the hard work of Mandy and others, ANPDF contributes 75% of the funding to Dr Hung’s NP-C research – a mammoth achievement by dedicated parents and friends to raise awareness of the disease and most importantly, find answers for their children.
Mandy and Dr Hung were joined by Professor Mark Walterfang from the Royal Melbourne Hospital, a neuropsychiatrist, who spoke about his clinical experience managing NP-C and neuroimaging research on brain changes in NP-C.