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Sheba Experts Tackle Rett Syndrome – A Rare Genetic Disorder Affecting Young Girls

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In a new collaborative project, clinicians from Sheba will work with peers from the Murdoch Children’s Research Institute to identify and research the root cause of Rett syndrome, a rare but debilitating disease.

Rett syndrome (RTT) is a debilitating disease that impacts one in 10,000 young girls. Although extremely rare, the condition impacts brain development, leading to both intellectual and physical disability throughout a person’s life. In most cases, RTT is caused by a mutation of the MECP2 gene found on the X chromosome, which is why it is almost exclusively found in girls.

RTT symptoms usually appear in children between six months and 18 months of age. Initial symptoms include muscle weakness and loss of speech, which can develop into seizures, loss of muscle control, and other severe quality of life impairments. Though there is no known cure for RTT, affected individuals usually live well into middle age and beyond.

In a bid to relieve RTT symptoms and allow patients an everyday life, Sheba experts have teamed up with their counterparts at Murdoch Children’s Research Institute (MCRI) to learn more about the disease by using next-generation sequencing technology to trace the gene sequencing that leads to RTT.

Researchers hope that by studying the genetics behind RTT, they can eventually develop effective treatments that will help those affected by the disease and others suffering from related neurodevelopmental disorders.


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