Rett syndrome
Rett syndrome (RTT) is a rare genetic disorder that affects brain development and causes disability from early childhood. It is most frequently seen in girls.
Symptoms include reduced brain growth, loss of acquired skills, speech difficulties, seizures and apraxia where the brain cannot deliver instructions for correct movement. This can lead to severe muscle incoordination, loss of conscious control of the hands, ‘hand wringing’ and impaired movement.
Depending on the clinical features they develop, affected individuals may be diagnosed with classic or ‘atypical’ (not typical) RTT. The atypical form shares many features with classic Rett syndrome.
Most affected children will not grow up to lead independent lives and they rarely reach middle age.
In most individuals, RTT is caused by a random mutation (change) in the MECP2 gene located on an X chromosome. Because it occurs as a random mutation, fewer than one per cent of cases are inherited. However, we do not know all the genes involved.
Who does it affect?
Who does it affect?
- RTT is the second most common cause of severe intellectual disability in females after Down syndrome.
- Rett syndrome affects approximately one in 8,500 females in Australia by the age of 15 years. More than 350 girls in Australia have been diagnosed.
- Infants and children with the disorder usually develop normally until about six to 18 months of age.
- Between three to 15 per cent of those affected remain without a genetic diagnosis, highlighting that there are likely more faulty genes yet to be discovered.
Our RTT research
Our RTT research
We use next generation sequencing technology to unravel the genetic mystery of RTT. This helps give a precise diagnosis and improves the chances of finding new, potentially effective therapies.
Using cutting-edge research, we assess genes linked to RTT. We also use stem cells – human cells that can develop into different cell types – to better study the consequences of mutations (changes) in RTT-associated genes. This provides models to enable screening of potential therapies.
We focus on providing earlier diagnosis for rarer genetic diseases affecting brain development and function. These tests can potentially be screening tools to identify RTT and related disorders.
Impacts of our research
Impacts of our research
- Leading a world-class study identifying underlying causes of RTT
- Identifying that a girl with RTT had a mutation in the KIF1A gene previously associated with KIF1A-Associated Neurological Disorder (KAND) but not RTT
- Finding that other KIF1A defects contribute to development of features overlapping with RTT
- Discovering that mutations in the CDKL5 gene cause a neurological (brain/nerve) disorder with features that overlap with RTT
- Identifying other genes associated with RTT including EEF1A2 and KAT6A, and discovering several genes that severely impact brain structure and function including NAXD, TRAPPC4, EXOC2, NRROS, TPR and PYROXD2.
Our vision
Our vision
Uncovering the genetic basis of Rett syndrome and related disorders improves diagnosis for children. Understanding the causes of these gene mutations more accurately defines disease pathways, allowing us to expedite new treatments for children with RTT and related disorders. Better and earlier diagnosis, treatments and cures are the ultimate goals.
Where to next?
Where to next?
With our improved understanding of the underlying biology of RTT we hope to be able to identify targeted therapies for RTT. Our ultimate goal is to cure or prevent Rett syndrome by using such therapies when children are babies, before the disease progresses and impacts brain development.
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