C2D2 establisment 4a - Investigating the neurological basis of sensory processing deficits in Rett syndrome

Project: Other internal award

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Description

Rett syndrome (RTT) is a devastating autism spectrum disorder that represents the second most common form of intellectual disability in females. Patients develop normally for the first 6 – 18 months of life, after which lose their acquired purposeful hand and spoken language skills, develop gait abnormalities and hand wringing, abnormal breathing, autistic behaviours, sensory processing deficits and seizures. Although it is known that RTT is caused by mutations in a single protein, the mechanisms through which these mutations lead to behavioural symptoms is poorly understood. In this proposal, we will identify the parts of the brain responsible for mediating altered sensory processing in mouse models of RTT and the behavioural consequences of this altered processing. Next, we will genetically dissect the cell types that mediate these changes in brain function and behaviour. Together, these studies will provide new insights into the changes that occur in the brain that lead to age-dependent manifestation of RTT. It is hoped that this will allow the development of new, targeted therapeutics focused on restoring brain function in this devastating disorder. These studies will have broad implications for our understanding of other autism spectrum disorders.

Layman's description

Rett syndrome (RTT) is a devastating autism spectrum disorder that represents the second most common form of intellectual disability in females. Patients develop normally for the first 6 – 18 months of life, after which lose their acquired purposeful hand and spoken language skills, develop gait abnormalities and hand wringing, abnormal breathing, autistic behaviours, sensory processing deficits and seizures. Although it is known that RTT is caused by mutations in a single protein, the mechanisms through which these mutations lead to behavioural symptoms is poorly understood. In this proposal, we will identify the parts of the brain responsible for mediating altered sensory processing in mouse models of RTT and the behavioural consequences of this altered processing. Next, we will genetically dissect the cell types that mediate these changes in brain function and behaviour. Together, these studies will provide new insights into the changes that occur in the brain that lead to age-dependent manifestation of RTT. It is hoped that this will allow the development of new, targeted therapeutics focused on restoring brain function in this devastating disorder. These studies will have broad implications for our understanding of other autism spectrum disorders.
StatusActive
Effective start/end date1/02/15 → …

Award relations

0002; Neural network alterations in Rett Syndrome

Goffin, D. L.

MEDICAL RESEARCH COUNCIL: £400,879.00

1/12/1630/11/19

Award date: 23/08/16

Award: UK Research Councils

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