CMRI looks at p53 and Rett Syndrome

A new cell transformation unit has been opened at the Children's Medical Research Institute (CMRI) in Sydney, headed by former Otago University microbiologist Professor Antony Braithwaite.

The team will concentrate particularly on the 'Guardian of the Genome', the p53 tumour suppressor gene. A particular focus will be research into the signalling processes that tell p53 how to function.

"We are studying how p53 works, how it can be used for therapy and its role in human ageing," Braithwaite said.

The unit will also look for natural variants in p53 and in other components of its regulatory pathway which may make some people more susceptible than others to developing conditions that speed up ageing and cancer onset.

The NSW Government has pledged $3.25 million over five years to the CMRI through its Cancer Institute Research Leaders' Program Grant.

Another CMRI scientist, Dr Greg Pelka, has been awarded the prestigious Peter Doherty Biomedical Fellowship for four years to continue his research into the MECP2 gene, mutations in which cause the female-specific Rett Syndrome.

Pelka was part of the team at CMRI's embryology research unit that found a link to another gene, CDKL5, implicated in Rett Syndrome.

Rett is an X chromosome-linked disorder that affects one in 10,000 girls and leads to microencephalopathy, autistic-like behaviours, locomotor disabilities and mental retardation. It is characterised by stereotypical hand-wringing behaviour.

Rett is not heritable and symptoms only become apparent six to 18 months after birth.