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Brain and Mitochondrial

The Brain and Mitochondrial Research Group is dedicated to revealing the function of unknown genes critical to the healthy development of brain and nerves. Using cutting edge research we are assessing alterations (mutations) that occur in the genes linked to Rett syndrome. Rett syndrome is the second most common (after Down syndrome) cause of severe intellectual disability in females.  Increasingly, we suspect that yet unidentified gene mutations are involved in Rett syndrome patients where a genetic diagnosis has not been made. Recent developments in DNA sequencing technology may allow us to discover new genes not previously associated with Rett syndrome. To model Rett syndrome ‘in a dish’ we are using Induced pluripotent stem cell (iPSC) technology where we can turn patient skin cells into different cell types relevant to Rett syndrome. This will allow us to better study the consequences of mistakes identified in these Rett syndrome genes, and provide patient-specific models for high-throughput therapeutic development.

We are also focusing on developing early diagnosis and intervention tests for the rarer genetic diseases. There are still no robust biochemical markers of Rett syndrome, but by using high throughput screening techniques on patient samples (blood and urine) we hope to identify protein or other chemical markers that detect Rett syndrome. Such biomarkers have the potential to be used by clinicians as an early screening test for Rett syndrome.

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