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Research

Reference genotype and exome data from an Australian Aboriginal population for health-based research

This data set provides a useful reference point for genomic studies on Aboriginal Australians

Research

Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in Sudan

Multiethnic associations between T2D and SNPs at TCF7L2, CAPN10 and HHEX extend to Sub-Saharan Africa, specifically Sudan

CDKL5 Publications

Publications from 2017 dating back to 2004 of CDKL5 researchers.

Our Research

We aim to share our research findings with families so that they may better understand Rett syndrome and the future for their family.

Parental perspectives on the communication abilities of their daughters with Rett syndrome

We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.

Clinical severity and X-chromosome inactivation

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

Feeding experiences and growth status in a Rett syndrome population

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Longitudinal hand function in Rett syndrome

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Equipment to support physical activity

Discover a comprehensive guide on equipment designed to empower physical activity in children with Rett Syndrome, promoting their well-being and development.

News & Events

IASSIDD 15th World Congress

Our AussieRett team recently visited Melbourne, Australia for the IASSIDD 15th World Congress.