Dr Gai McMichael awarded a Dean's Commendation for Doctoral Thesis Excellence02 June 2016
Congratulations to Dr Gai McMichael for being awarded the Dean's Commendation for Doctoral Thesis Excellence by the University of Adelaide for an outstanding PhD.
Gai’s doctoral research explores the genetic contribution to cerebral palsy (CP) using whole-exome sequencing in a cohort of sporadic cerebral palsy cases, and in families with more than one individual with a confirmed diagnosis of cerebral palsy.
Cerebral palsy is the most frequent cause of physical disability in childhood. Its prevalence (1 in 400 children) has changed little in 50 years, the causes remain largely unknown and the contribution of genetic causes have not been widely examined.
The study highlights the genetic heterogeneity and complexity of cerebral palsy. The findings show 14% of sporadic CP cases had a potentially pathogenic gene variant, and in the families with more than one affected individual, a potentially causative gene variant was also found.
Cerebral palsy is of major importance to the affected individuals, their families and society. Identifying genetic causes of cerebral allows improved recurrence risk counselling, increases reproductive options for some families and opens the way for treatment based on an improved understanding of the individual’s, or a group of individuals’, specific genetic diagnosis.