Dr David Mowat

Dr David Mowat is a clinician and researcher with a primary interest in diagnosing the genetic causes of rare diseases and syndromes. Their work focuses on translational medicine to improve clinical outcomes for patients. Dr Mowat is involved in genomic projects across various disease cohorts, including rare Mendelian disorders, intellectual disability, and adult and paediatric neuromuscular disorders. They are recognised for identifying an important syndromal cause of intellectual disability ��� Mowat-Wilson syndrome ��� and has contributed to the discovery of a number of novel disease-causing genes.

Dr Mowat has been an active member of several professional organisations, NIH grant study sections, and editorial boards of journals. They have conducted extramurally funded research on Prader-Willi syndrome and obesity-related disorders, alcoholism, the genetics of autism and intellectual disabilities, and the delineation of rare and uncommon genetic disorders such as Mowat-Wilson syndrome. Dr Mowat has an active medical practice in clinical genetics. Their groundbreaking work has revealed how interactions between multiple genetic mutations converge to produce the observed clinical phenotype in patients.

Currently, their lab focuses on uncovering the complex genetic and cellular interactions underlying disorders that affect both the central and enteric nervous systems. This includes research on Mowat-Wilson Syndrome, where their team aims to dissect the genetic and mechanistic pathways that contribute to the spectrum of symptoms in these patients. Ultimately, their research seeks to inform therapeutic strategies for managing these challenging conditions.