Super excited to post my first preprint and first lead author paper from the Geschwind lab in which we used expression networks to find neuronal energetic to be abnormal across three mice model of psychiatric disorders. Thread to follow. 1/ biorxiv.org/content/10.110…
We examined the cortical and hippocampal transcriptome in three mouse models of psychiatric disorders 15q13.3 deletion, 1q21.1 deletion and 22q11.2 deletion. Initial differential expression didn’t uncover any points of convergence between the different mouse models. 2/
Using co-expression networks (WGCNA) we discovered a module dysregulated across the different mouse models which was linked to neuronal mitochondrial function and more specifically to the energetics of firing rates in inhibitory neurons. 3/
This work was a great collaboration with @a_forsingdal, Ib Vestergaard Klewe, Jacob Nielsen, Michael Didriksen, and @thomas_werge end/
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It’s out! “Neuronal defects in a human cellular model of 22q11.2 deletion syndrome” in which we used 3D human cortical spheroids neurons to study the pathways linked to neuropsychiatric disease in 22q11.2 deletion. rdcu.be/b7N8D
22q11.2 deletion syndrome (22q11DS) is a highly penetrant and common genetic cause of neuropsychiatric disease. 1 in 4 22q11.2DS patients develop psychosis,
which corresponds to a 20-fold increase in risk and accounts for 1–2% of all SCZ cases.