Detecting, understanding and targeting disrupted glycan accumulation in mucopolysaccharidoses patients

Mucopolysaccharidoses (MPS) is a disorder that prevents the breakdown of polysaccharides, leading to their accumulation. This condition causes progressive developmental problems after birth that results in premature death. Collectively MPS is observed in about 1 in 30,000 births. There is currently no cure and the efficacy of existing treatments is impaired by delayed diagnosis and insensitive monitoring.

An analytical method called time-of-flight secondary ion mass spectrometry (ToF-SIMS) has recently been used to analyse polysaccharides, demonstrating orders of magnitude greater sensitivity than existing methods. In this project, ToF-SIMS will be investigated for its ability to enable early diagnosis of MPS by analysing patient urine and blood samples and as a tool to aid in the development of new MPS therapies.

Further, advanced cell culture methods and novel protein labelling approaches will be used to enable detailed assessment of how different enzymes associated with MPS interact to identify new targets for the development of novel therapies.

This project brings together multiple disciplines including analytical science, matrix biology, machine learning and cell culture. It has been designed to provide a well-structured interdisciplinary training programme, linking up with patient support groups and an industrial partner to support the career development of a highly skilled researcher.