You are here

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)...

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...

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...

Male and female brains differ in anatomy, chemistry and behaviour. The prevailing dogma that oestrogen is the key factor involved in brain sex...

Disorders of sex development (DSDs), formerly intersex are congenital conditions where gonadal or anatomical sex is atypical. DSDs encompass a wide...

The Harley laboratory has identified a sex reversed XY female patient with early onset Parkinson’s disease (PD). Through whole exome sequencing, it...

Parkinson’s disease (PD) is a debilitating neurodegenerative disorder, triggered by the death of dopamine neurons in the brain region known as the...

Gender identity is the gender with which a person identifies. Studies suggest that gender identity is affected by genetic, prenatal hormonal or...