Research Projects
The ATR-X syndrome, an X-linked recessive developmental disorder affecting males, belongs to a growing list of disorders of sex development (DSD)...
Supervisor: Professor Vincent Harley
For the majority of DSD cases the underlying genetic aetiology is unknown. In males Sox9 is a critical ‘hub’ gene involved in sexual development. We...
Supervisor: Professor Vincent Harley
We have identified the first FGFR2 mutations in XY female sex reversed DSD patients. One case, a heterozygous FGFR2c-C342S mutation in a patient with...
Supervisor: Professor Vincent Harley
Male and female brains differ in anatomy, chemistry and behaviour. The prevailing dogma that oestrogen is the key factor involved in brain sex...
Supervisor: Professor Vincent Harley
Disorders of sex development (DSDs), formerly intersex are congenital conditions where gonadal or anatomical sex is atypical. DSDs encompass a wide...
Supervisor: Professor Vincent Harley
The Harley laboratory has identified a sex reversed XY female patient with early onset Parkinson’s disease (PD). Through whole exome sequencing, it...
Supervisor: Professor Vincent Harley
Parkinson’s disease (PD) is a debilitating neurodegenerative disorder, triggered by the death of dopamine neurons in the brain region known as the...
Supervisor: Professor Vincent Harley
Gender identity is the gender with which a person identifies. Studies suggest that gender identity is affected by genetic, prenatal hormonal or...
Supervisor: Professor Vincent Harley