The current work focuses on understanding the causes and clinical consequences of epigenetic mutations in imprinting disorders and discovering new imprinting conditions. For example, the group have identified several novel genetic causes of epigenetic aberrations in families with neonatal diabetes and were the first to recognize imprinting overlap conditions with epigenetic mutations at multiple loci.
Research includes basic molecular and cellular biological approaches, bioinformatics and high throughput sequence analysis, developing effective genetic tests for NHS service and clinical research into treatments, complications, natural history and prognosis of imprinting disorders, particularly Transient Neonatal Diabetes, Silver Russell syndrome, Beckwith Wiedemann syndrome, Temple syndrome, Wang syndrome, Pseudohypoparathyroidism and unique overlap syndromes.