Working to understand citrin deficiency
A/Prof Diana Stojanovski’s citrin research receives further funding from philanthropic organisation, Citrin Foundation.
Citrin Deficiency (CD) is a rare inherited condition caused by changes in a gene called SLC25A13. This gene is responsible for making a protein called citrin, which plays an important role in how our cells process energy and remove waste. Although scientists understand what citrin does, they still don’t fully know how it’s made or how it reaches the right part of the cell - specifically, the inner membrane of the mitochondrion, which is like the cell’s power plant.
Image: Associate Professor Diana Stojanovski
The Stojanovski Lab in the Department of Biochemistry & Pharmacology has been awarded a second research grant from the Citrin Foundation to help fill these gaps. The project led by Dr Catherine Palmer is studying how citrin is produced and where it goes inside the cell. It will use advanced CRISPR screening technology, to discover other pathways that might help the body cope when citrin isn’t working properly. This research could lead to better understanding of the disease and pave the way for new treatments.
Citrin Deficiency is a devastating metabolic condition. Our research is revealing how the Citrin is built, regulated, and ultimately how it might be targeted for therapy. The support of the Citrin Foundation has been instrumental in driving this progress, and it has been a privilege to work alongside them. What I find truly inspiring is the way the Foundation has united such a diverse team — from fundamental biologists to clinical researchers — all working toward a shared goal. Bringing these unique perspectives together has created a powerful, focused approach, and it has been remarkable to witness the strength of this collective effort to find a cure for Citrin Deficiency.
Associate Professor Diana Stojanovski
Image: Stojanovski Research Group
The Citrin Foundation is a global nonprofit organisation dedicated to helping people with citrin deficiency. Founded in 2016, the Foundation is investing $30 million over 10 years to fund cutting-edge research and develop new therapies. It works closely with scientists, doctors, and companies to turn promising discoveries into real treatments that can help patients around the world.
Beyond research, the Citrin Foundation also provides vital support to families affected by CD. From educational resources to wellness programs, the Foundation is committed to improving the quality of life for those living with this challenging condition.