Identification of Gene Modifiers that Ameliorate Rett Symptoms

Monica Justice, PhD | Hospital for Sick Children (Toronto)

$2,300,000 AWARDED

Individuals with Rett display a broad spectrum of symptom severity. Some girls can run, have a degree of hand use and can speak in short sentences while others cannot even sit or hold their head up. One reason for this variation is the child’s own unique genetic makeup – in other words, variations in other genes that impact the severity of the Rett mutation. Monica Justice, Head and Senior Scientist in the Genetics & Genome Biology program at The Hospital for Sick Children in Toronto, has undertaken a mutagenesis screen to identify these modifying genes with a focus on suppressors of symptoms, hoping that they might suggest a therapeutic pathway. The first suppressor she identified, squalene epoxidase, has led to a clinical trial of  lovastatin.

Dr. Justice has identified several dozen modifiers to date. We will keep you informed on her progress on the screen.

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