Search the site

Research

Vision loss and diabetic retinopathy prevalence and risk among a cohort of Indigenous and non-Indigenous Australians with type 2 diabetes receiving renal haemodialysis treatment

Diabetic nephropathy, vision loss and diabetic retinopathy are frequent comorbidities among individuals with type 2 diabetes (T2D). The Retinopathy in People Currently On Renal Dialysis study sought to examine the epidemiology and risk of vision impairment and among a cohort of Indigenous and non-Indigenous Australians with T2D currently receiving haemodialysis for end-stage renal failure.

Research

Association between Congenital Anomalies and Late-Onset Bacterial Infections in Neonates Admitted to Neonatal Intensive Care Units in Australia and New Zealand

Compromised neonatal intensive care unit neonates are at risk of acquiring late-onset infections (late-onset sepsis [LOS]). Neonates born with congenital anomalies could have an additional LOS risk.

Research

Prevalence and burden of coronary artery disease on computed tomography coronary angiography and its correlation with high-density lipoprotein in the Northern Territory, Australia

Indigenous Australians are known to have a higher prevalence of coronary artery disease (CAD) than non-Indigenous counterparts. Atherogenic lipid profiles, characterised by low serum levels of high-density lipoprotein (HDL) and higher serum triglycerides, have been shown to be more prevalent in Indigenous Australians. The use of computed tomography coronary angiography (CTCA) for risk stratification and diagnosis of CAD has been validated in moderate risk populations, but limited data exists in specific high-risk populations such as Indigenous Australians.

AussieRett

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

InterRett

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

The CDKL5 Disorder

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

Areas of research

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

Investigating genotype - phenotype relationships in Rett syndrome using an international database

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

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.