Earlier this quarter we were visited by Paul Best, to talk about the wonderful work of the Murdoch Children's Research Institute.
Paul and his wife Kara's world changed dramatically when their daughter Adelaide received a diagnosis of BPAN (more elaborately known as Beta-Propeller Protein-Associated Neuro Degeneration), an incurable rare brain disorder caused by a spelling mistake on her WDR45 gene.
BPAN was only identified around six years ago, and there are only 13 diagnosed cases in Australia and potentially around 500 world-wide. This disorder causes global developmental delay in childhood which becomes progressive in early adulthood. It also leads to Parkinsons, Dystonia, vision loss and Alzheimers.
Remarkable advances have been made in pursuit of a cure by one incredible family in Melbourne who have worked with an anonymous donor and a team at the Murdoch Children’s Research Institute in Melbourne (MCRI) to establish a dedicated research program devoted to addressing the cell degeneration which causes such a catastrophic outcome for those with BPAN.
This research has the capacity to benefit many other neurological disorders such as Motor Neurone Disease and Parkinson’s Disease.
To continue with year 2 and year 3 of this research program, additional funds are required. The Power Tynan Charitable Trust recently donated $1,500 to this very worthy cause.
Donations can be made at https://www.mcri.edu.au/bpandonate
Any contribution is very much appreciated, and may well fund that hour of lab work that leads to the identification of a cure.
Thank you Paul for sharing your story ❤️