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Research Projects

The ATR-X syndrome, an X-linked recessive developmental disorder affecting males, belongs to a growing list of Intersex conditions which affect 1% of...

For the majority of Intersex cases the underlying genetic aetiology is unknown. In males Sox9 is a critical ‘hub’ gene involved in sexual development...

We have identified the first FGFR2 mutations in XY female sex reversed Intersex patients. One case, a heterozygous FGFR2c-C342S mutation in a patient...

Intersex conditions are congenital conditions where gonadal or anatomical sex is atypical. Intersex conditions encompass a wide range of...

There are sex differences in the prevalence, onset, and severity of most complex traits and diseases. However, biomedical research has often studied...

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...