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Refining the phenotype of common mutations

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

Updating the profile of C-terminal MECP2 deletions

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.

Linking MECP2 and pain sensitivity

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.

Survival with Rett syndrome

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

Stereotypical hand movements

We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.

Speakers

Meet the speakers Prof. Bob Hancock      Title: Canada Research Chair in Health and Genomics; Director, Centre for Microbial Diseases and Immunity

News & Events

The dangers of melanoma

Head of Cancer Immunotherapy Research at the The Kids Cancer Centre, Dr Jason Waithman, says Australia has one of the highest rates of skin cancer in the world.

News & Events

National grants to support child health research

The Kids Research Institute Australia researchers have been awarded nearly $8.5 million from the National Health and Medical Research Council.