Roula Ghaoui


Roula Ghaoui is an Adult Neurologist at the Royal Adelaide Hospital, Australia, with subspecialty qualifications in neuromuscular and neurogenetic disorders. After completing a combined neuromuscular and neurophysiology fellowship at the Royal North Shore hospital in Sydney in 2012, she completed a PhD in neurogenetics and neuromuscular disorders at the Children’s hospital at Westmead and through the University of Sydney in 2017. Dr Ghaoui’s main research interests include using next generation sequencing to establish the genetic diagnoses in previously undiagnosed families with myopathies and limb-girdle muscular dystrophies and in the treatment of muscle disorders. She is the South Australian member of the Mito Foundation Scientific and Medical Advisory Panel. She is also part of the working group and the state Co-Lead for the neuromuscular disorders flagship of the Australian genomics health alliance (AGHA) project, which is focused on studying the diagnostic yield from single gene testing as standard of care, targeted panel analysis and whole genome and RNA-sequencing. She has been recently awarded an early career research fellowship that will enable her to examine the utility of RNA sequencing as a complementary diagnostic tool in a cohort of families with inherited myopathy or limb-girdle muscular dystrophy (LGMD) that have remained undiagnosed despite next generation sequencing (NGS).