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Research

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

Research

Several studies have established that patients with localized perinatal neuroblastoma can be safely observed; however, long-term outcomes have not been previously reported. We evaluated long-term outcomes of infants with suspected perinatal neuroblastoma enrolled on the Children's Oncology Group ANBL00P2, which included an expectant observation approach. 

Research

Occurring in 1% of school-aged children, Tourette syndrome is a neurodevelopmental disorder characterised by uncontrollable movements and vocalisations known as tics.

Research

Meningitis is when the membranes that surround the brain and spinal cord (meninges) become infected by the bacteria Neisseria meningitidis.

The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.

Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics.

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

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