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We’ve established a preclinical mouse model of NF1, to understand the pathogenic mechanisms mediating autism, ADHD, learning difficulties and other psychiatric and cognitive symptoms commonly seen in this condition.
The long-term aim of this research is to assess novel therapeutic approaches specifically targeting these aspects of NF1, which significantly impact quality of life, but which remain unaddressed by current treatment strategies. This Nf1 +/- mouse model involves a heterozygous null gene mutation in the mouse neurofibromin gene (Nf1), the human homologue of which is mutated in patients with NF1.
We’ve performed a wide range of mouse behavioural tests and have been able to replicate previously published findings that have shown these mice have a deficiency in spatial learning, short-term memory and altered sociability, as well as increased brain weights. Nf1 +/- mice also showed differences in body weight trajectory which may be related to metabolic differences, which are also highly relevant to NF1 patients. Intriguingly, several gastrointestinal organs were also found to be anatomically changed in Nf1 +/- mice.
In further work, we will perform further cutting-edge cognitive tests in this mouse model, which can identify subtle cognitive deficits and which are directly translatable. Ultimately, candidate drugs (guided by our clinical NF1 collaborators in Melbourne) will be trialled in these mice to assess their preclinical efficacy in correcting cognitive and psychiatric behavioural symptoms.
The long-term aim of this research is to assess novel therapeutic approaches specifically targeting these aspects of NF1, which significantly impact quality of life, but which remain unaddressed by current treatment strategies. This Nf1 +/- mouse model involves a heterozygous null gene mutation in the mouse neurofibromin gene (Nf1), the human homologue of which is mutated in patients with NF1.
We’ve performed a wide range of mouse behavioural tests and have been able to replicate previously published findings that have shown these mice have a deficiency in spatial learning, short-term memory and altered sociability, as well as increased brain weights. Nf1 +/- mice also showed differences in body weight trajectory which may be related to metabolic differences, which are also highly relevant to NF1 patients. Intriguingly, several gastrointestinal organs were also found to be anatomically changed in Nf1 +/- mice.
In further work, we will perform further cutting-edge cognitive tests in this mouse model, which can identify subtle cognitive deficits and which are directly translatable. Ultimately, candidate drugs (guided by our clinical NF1 collaborators in Melbourne) will be trialled in these mice to assess their preclinical efficacy in correcting cognitive and psychiatric behavioural symptoms.