Projects

The purpose of SMA Europe is to provide a framework to stimulate collaboration and accelerate translational research pathways in SMA and promote patient care.

  1. Molecular mechanisms of synaptic transmission of the sensory motor-circuit in spinal muscular atrophy

    Principal investigator(s) :
    Dr. Christian Simon
    Institution :
    University of Leipzig, Germany
    Grant :
    €150,000
    Grant Type:
    Operating Grant
    Call number :
    10
    Start year :
    2020
    Duration :
    2 years
    Status :
    Not yet started


    Dr Christian SimonDr. Christian Simon from Leipzig University is currently a group leader at the Carl-Ludwig-Institute for Physiology as a part of Professor Stefan Hallermann’s laboratory. Dr. Simon’s group studies the mechanisms of neuronal death and dysfunction in motor neuron diseases. During his Masters and PhD, under the supervision of Professor Michael Sendtner at the University of Würzburg, Dr. Simon studied the beneficial effects of neurotrophic factors in SMA mouse models by applying molecular and imaging techniques. In 2012, he joined Prof. George Mentis’ group at Columbia University as a Postdoc, to study neuronal circuitry dysfunction in the spinal cord of SMA mice and stem cell-derived motor neurons. By applying intracellular recordings combined with high resolution microscopy, Dr. Simon could identify novel mechanistic insights of neuronal death and the important contribution of proprioceptive neurons during SMA disease progression. In 2013, he received the Roche Young Investigator Award for neurological research. After his return to Germany in 2017, a grant from the German Research Council allowed him to start his own group in Leipzig.Dr. Christian Simon has been granted an SMA Europe award to investigate how proprioceptive synapses degenerate and how their function could be improved, which may aid the discovery of novel therapeutic strategies in humans.

    Background

    Muscle shrinkage and paralysis are the most prominent physical features of SMA patients. Motor neurons that control muscle function are increasingly lost in this disease, which was the main focus of SMA research for decades. However, Dr. Simon and his team recently showed that proprioceptive neurons, which receive spatial information from the muscle and in turn activate motor neurons for proper movement, contribute to SMA immobility.

    What is Dr Simon aiming to do and why?

    In this proposal, Dr. Simon will explore, in mice, whether proprioceptive neurons can be used as a non-invasive, functional biomarker of the disease progression in SMA patients before and during treatment. Furthermore, he will investigate how proprioceptive synapses degenerate and how their function can be improved, in mice.

    How will this work benefit patients?

    Dr. Simon's work may aid the discovery of novel therapeutic strategies for people living with SMA.