Photo: Left to right: Dr Nicole van Bergen; A/Prof Paul Lockhart; Dr Jay Shukla

MCRI researchers have received USD120 000 in funding to tease out the underlying causes of two rare genetic diseases. The two brain conditions are called BPAN, which causes movement and cognitive problems in affected kids, and a severe disorder that overlaps with Rett syndrome called CDKL5 Deficiency Disorder (CDD). 

The competitive funding received via the Million Dollar Bike Ride grant program will allow the two teams to begin teasing out the underlying causes of these devastating diseases, the first and most crucial step in beginning the search for new treatments.

Both research teams will take advantage of the Institute's cutting-edge stem cell and gene-editing capabilities and world-leading talent to turn skin samples from patients into affected and unaffected brain cells. This allows the teams to model BPAN and CDD disease processes in a laboratory dish and compare them to healthy cells. 

Associate Professor Paul Lockhart, who leads the BPAN research program, said, "This funding success really belongs to our patients and families. Without their drive and determination in kickstarting this research project, we would not be in a position to begin applying for these competitive, peer-reviewed funding schemes."

The CDKL5 deficiency disorder project is led by Dr Nicole van Bergen, who said, "CDD has a terrible and profound impact on affected children, their families and the wider health system. Severe seizures result in a decline in motor, cognitive and behavioural ability, and patients are left completely dependent on their families for decades. We desperately need improve our understanding of what's happening inside these patient's brain cells so we can start searching for treatments."

The Million Dollar Bike Ride grants are an initiative of The Orphan Disease Centre at the University of Pennsylvania which raises funds to find answers for the more than 7000 rare 'orphan' diseases, those diseases with no treatments or cure. 

Both projects will be carried out within the Genetics Theme of the MCRI. Professor John Christodoulou, Genetics Theme Director  said "Paul and Nicole are at the coalface of our efforts to make meaningful differences to these patients and their families. On behalf of the researchers and the families I'd like to thank the organisers of the Million Dollar Bike Ride and of course the more than 750 riders who worked so hard to raise these much-needed funds."