Tag: mouse models

Subcortical multisensory integration in mouse models of autism spectrum disorder

Individuals with autism spectrum disorder experience difficulty integrating across sensory modalities, such as sight and sound. Multisensory integration is particularly prevalent in the subcortical superior colliculus, yet studies to date have not investigated its potential contributions to ASD. In this study, Feinberg plans to test the hypothesis that superior colliculus multisensory integration is altered in mouse models of ASD.

Development of CRISPR activation therapeutics to rescue SCN2A function

Haploinsufficiency in SCN2A is among the most common risk factors for autism spectrum disorder (ASD). Using Scn2a heterozygous mice, the Ahituv lab will utilize CRISPR activation (CRISPRa) technologies to upregulate Scn2a expression and assess whether synaptic function deficits can be rescued. This work will provide insights into the therapeutic potential of CRISPRa-mediated gene therapy to treat ASD resulting from Scn2a loss-of-function variants and potentially other haploinsufficient genetic mutations.

Restoring FMRP in a mouse model of fragile X syndrome

The symptoms of fragile X syndrome stem from the loss of a single protein, raising the possibility that reintroducing FMRP could counter the key problems that lead to disrupted signal processing and aberrant behaviors. Turner is proposing a new means to reintroduce a short active fragment of FMRP back into central neurons in the Fmrp1 knockout mouse model to assess its potential utility as a therapeutic strategy to restore circuit and behavioral function in fragile X syndrome.

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