Heather studied Biology and Chemistry at Goldsmith’s College, University of London, graduating in 1987. She then gained a Ph.D. in analytical chemistry from the Department of Chemistry, University of Manchester in 1991. Heather worked as a post-doctoral research scientist within the Department of Obstetrics and Gynaecology, University of Manchester from 1991-1999 with a specific interest in cell adhesion and the role of extracellular matrix in human physiology.

In 1999 Heather took up the position of Clinical Biochemist in the Willink Biochemical Genetics Unit, now part of Genomic Medicine, Manchester Foundation Trust with a specialist interest in lysosomal disease. Heather was appointed Principal Clinical Scientist in 2008 and has overseen the expansion of highly specialised laboratory services, focussing on improved diagnosis and monitoring treatment efficacy of pioneering new therapies for patients with lysosomal disease.

Lysosomal disorders (LDs) are chronic and progressive disorders characterised by storage of intermediate catabolites due to pathogenic variants in the relevant coding genes, leading to a defective and non-functional protein (often an enzyme). Strategies for achieving diagnosis for these disorders can therefore be to target the defective gene by genetic analysis, evaluate protein function, or to look for evidence of disease by measuring the stored material as a biomarker.

While the diagnosis of a specific LD can be confirmed by demonstration of decreased enzyme activity and pathogenic variants in the relevant gene, this can be complicated by the presence of benign variants and variants of uncertain significance in target genes, resulting in abnormal biochemistry.

Biomarkers for LDs can arise both directly or indirectly from manifestations of a particular disease and the clinical applications of biomarkers include improved diagnosis, monitoring disease progression, and assessing therapeutic correction. My talk will present new biomarker assays recently introduced by the Willink service and discuss the importance of understanding the clinical phenotypes of the target patient group.  In addition, I will present cases where biomarker analyses have clarified underlying diagnosis or guided the need for additional investigations for complex patients, and how the efficacy of new therapies is being monitored.  While biomarkers are powerful additional tools to support the diagnosis of LD patients, it is important to recognise the limitations particularly when investigating patients with attenuated phenotypes.