Laboratory of Neuroanatomy

Glutamatergic synapses and circuits in neurodevelopmental and rare syndromic disease.

Since many neurodevelopmental disorders and several rare syndromic diseases are caused by mutations in genes encoding major proteins at glutamatergic synapses, they are regarded as "synaptopathies". The main focus of the Schmeisser lab is to understand their neuroanatomical phenotypes and underlying neurobiological mechanisms. To achieve these aims, the neuronal circuits of translational model systems such as genetically modified mice and stem cell-based human cultures is analyzed with a broad spectrum of methods ranging from mouse behaviour to classical neuromorphology and from neurophysiology to in vivo imaging.

Several projects address translational questions in the field of autism spectrum disorders (ASD), and neurodevelopmental disorder with a global prevalence of approximatly 0,8%. A central goal of these projects is to uncover novel converging ASD patho-mechanisms that could further be targeted by innovative therapeutical approaches. Targets of interest are K63-linked ubiquitation of synaptic proteins, mitochondrial respiration at synapses and synaptic neurotrophic factor signaling. Importantly, a variety of well-established genetically modified mice are analyzed at the same time to increase the propability of the true patho-mechanistic convergence. Other projects are focused on rare-syndromic disease such as Rasopathies, Tuberous Sclerosis and Galloway-Mowat Syndrome and also aim at a better translational understanding of patho-mechanisms and at the identification of novel therapeutic targets.