Matthew E.R. Butchbach, PhD

Dr. Butchbach's research interests focus on the understanding the molecular mechanisms that cause motor neurons in the spinal cord to degenerate. As their research requires the development and use of multiple systems to model motor neurons, they use multiple approaches and techniques—including those based on biochemistry, genetics, cell biology, neuroanatomy, pharmacology, behavior and mathematical biology—in their investigations. These approaches aim to provide a comprehensive understanding of how different disease-associated gene mutations affect motor neuron function. This information is then used to develop and test novel therapeutic strategies to help prevent motor neuron degeneration. Their focus is on early-onset, genetic motor neuron diseases such as spinal muscular atrophy (SMA), distal hereditary motor neuropathies (HMNs), Charcot-Marie-Tooth peripheral neuropathies and certain forms of amyotrophic lateral sclerosis (ALS). This approach can also be applied to other neurodegenerative diseases as well as to acquired neuronal injury, which would likely yield new collaborative initiatives with other research programs focusing on biochemistry, neuroscience, molecular genetics and pharmacology.

Prior and current work on motor neuron diseases (MNDs) use a reductionist approach wherein a single gene was associated with a specific MND. Previous research on MNDs has focused on a single disorder, like SMA, which has led to therapeutic options for this rare disease. Unfortunately, therapies specific to SMA have not been effective against other pediatric-onset MNDs. An alternative to a reductionist approach which focuses on a single motor neuron disease, their approach uses a network-based strategy that characterizes a cluster of interacting genes/proteins which are linked to a specific function or phenotype—in this case, motor unit function. Loss of or alteration in one component within this network (for example, loss of SMN1 in SMA), the behavior of the entire network is altered thereby affecting motor function. Identification of a therapeutic agent could potentially activate one of the undamaged components within this network could partially compensate for the diminished function. This network-based approach provides novel insights into the biology of motor neurons and how they are affected in pediatric-onset MNDs as well as expanding the therapeutic repertoire for many of these disorders.

PhD - Ohio State University, Columbus, Ohio - 2003
MS - Ohio State University, Columbus, Ohio - 2000