Rare Diseases Day 2022

28 February 2022

Rare Disease Day took place on the 28th of February and aims to raise awareness and support people worldwide living with a rare disease, as well as their families and carers.

The SA Pathology National Referral Laboratory (NRL) does wonderful work with these rare diseases, helping to diagnose them as early as possible so that patients may have the best possible chance at recovery or treatment.

Professor Maria Fuller and her team are at the forefront of innovation and have developed a test that is the first of its kind in the world.

Using a Mass Spectrometer, they can identify each of the 10 subtypes of the mucopolysaccharidoses, (a group of rare metabolic disorders) in just one assay.

The team believes this development is a game-changer and one that will change lives for the better.

The Mass Spectrometer is key in delivering incredible patient care and means that babies and small children do not need to provide large volumes of blood, with the test for disease biomarkers using just .001 of a Millilitre of Plasma.

The machine is currently able to identify Gaucher Disease, Fabry disease, Metachromatic Leukodystrophy and Neimann-Pick Disease Type C. It also allows the NRL to help diagnose without the multitude of tests required previously, which were often long-winded and sometimes traumatic for the patient.

Doctor Jennifer Saville, a Scientific Lead for the Laboratory, is one of SA Pathology’s scientists currently working on expanding the method to aid with the diagnosis of even more rare diseases.

“We’ve got to remember that there are little babies, there are children and patients at the end of this so some of these diseases if we can get them diagnosed early enough there are treatments.”

Thank you again to Maria, Jennifer and the entire NRL team for your incredible contribution to SA Pathology.