Top of page
Health

New research into a rare genetic brain condition

3d medical background with male head and brain on dna strands

The Murdoch Children’s Research Institute (MCRI) is launching an Australian-first research project into a genetic brain disorder that causes intellectual disability, seizures and degeneration. Affected children appear to have a static disorder but then lose developmental skills and have a reduced lifespan.

The cutting-edge project, made possible by generous philanthropic support, aims to discover how the genetic cause results in the condition and begin large scale drug screening of potential therapies.

MCRI researchers have a long history of investigating and finding disease genes and developing therapies for childhood disorders. They are hoping for a breakthrough into this condition – Beta-Propeller Protein-Associated Neurodegeneration (BPAN).

This is the first BPAN project in Australia and one of only a few globally. It was only made possible by the dedication and tenacity of David and Edwina Hunter, who have garnered significant philanthropic funding. Their son, Angus, was diagnosed with BPAN in 2016 when he was two years of age.

“The clock is ticking; a cure or treatment must be found for Angus and other children diagnosed with BPAN before they reach their late teens or early twenties, which is when the deterioration starts. We have so far raised about half the funds needed to begin scientific research into BPAN, and I’m calling on everyday Australians to help us help these brilliant scientists.” said Mr Hunter.

To find out more about the program, go to mcri.edu.au/bpandonate

You might also like

Young female caregiver helping a senior man in a wheelchair in a nursing home at night smiling Young female caregiver helping a senior man in a wheelchair in a nursing home at night smiling

HHS announces new rule to bolster disability protections under Federal law

The US Department of Health and Human Services unveiled a…

Video camera with young female blogger Video camera with young female blogger

Healing Frames: Exploring the Transformative Role of Videos in Healthcare

In the ever-evolving landscape of healthcare, the integration of technology…

Young woman having video call with doctor on tablet at home Young woman having video call with doctor on tablet at home

Tips for finding an online therapist 

As the digital age progresses, mental healthcare has adapted by…