Dr. Deborah Mackay

Biography

Deborah Mackay leads the Wessex Imprinting Group, which is dedicated to a broad program of research on human imprinting disorders, congenital disorders that affect the regulation of genes beyond the DNA sequence. Her team works to delineate the genetic causes and epigenetic features of imprinting disorders, aiming to understand the biology of imprinting and improve the lives of patients affected by these disorders. They have identified a locus associated with a rare imprinting disorder, transient neonatal diabetes (TND), which is characterized by severe growth restriction and infant diabetes, and have defined the DNA methylation anomalies that cause this condition, developing robust testing for affected neonates. In recent years, Mackay's group has studied several syndromes including Beckwith-Wiedemann syndrome (BWS), Silver-Russell Syndrome (SRS), Temple Syndrome (TS14), and Pseudohypoparathyroidism type 1b (PHP1b). The group identified a 'multi-locus imprinting disorder' (MLID) in patients with DNA methylation issues affecting multiple imprinted genes throughout the genome, fundamentally changing perceptions of epigenome evolution and development. They have also shown that mutations in ZFP57 are associated with MLID, linking these mutations to maternal reproductive fitness and offspring health. Their ongoing “Imprinting disorders – finding why” (IDFOW) study aims to explore DNA methylation anomalies in a UK-based patient cohort, revealing that imprinting disorders are more common and diverse than previously suspected, thereby enhancing genotype-phenotype correlation and personalized clinical management.

Research Interests

Experience