Title: Professor
Company: The Ohio State University Wexner Medical Center
Location: Columbus, Ohio, United States
Arthur H.M. Burghes, PhD, professor at The Ohio State University Wexner Medical Center, has been recognized by Marquis Who’s Who Top Educators for dedication, achievements, and leadership in academia.
With over four and a half decades of experience, Mr. Burghes has established a successful career in academia, specializing in the genetics of neuromuscular disease. He currently excels as a professor at The Ohio State University Medical Center, a role he has held since 1988. In this position, he has focused on researching spinal muscular atrophy (SMA), developing mouse models and gene therapy for the disorder. His career began as a technician at Hammersmith Hospital in 1978. In light of his impressive undertakings, he was honored with the 2019 Distinguished Scholar Award in recognition of his groundbreaking work in SMA, which predominantly affects children by targeting motor neurons. Upon joining The Ohio State University, he initiated a program focused on SMA, a field where the causative gene was previously unknown. His team utilized linkage mapping to locate the gene, which was eventually cloned by a French research group. His lab played a crucial role in maintaining gene fragments and developing mouse models of SMA, creating a dosage test for carrier testing, and improving detection of smaller mutations. A key breakthrough was identifying that the number of copies of the Survival Motor Neuron 2 (SMN2) gene influenced the severity of SMA, with a higher copy number correlating with a milder phenotype, leading to significant advancements in SMA research and treatment.
Mr. Burghes has dedicated his time to the scientific advisory board for research in spinal muscular atrophy at the American Society of Gene and Cell Therapy since 1997 and served on the European board for spinal muscular atrophy from 2010 to 2012. He takes great pride in his collaboration with Brian Kaspar from Nationwide Children’s Hospital, contributing to the development of a gene therapy for SMA. The successful Phase I clinical trial in 2017 demonstrated the therapy’s effectiveness, leading to the introduction of newborn screening for SMA. Early detection and treatment have since resulted in markedly improved clinical outcomes for affected infants, allowing them to lead near-normal lives when treated promptly. Laying a solid educational foundation, he earned a Bachelor of Science in cellular and microbial biology at the University of Calgary in 1978, a PhD from the University of London in 1984, and completed postdoctoral research at the University of Toronto in 1988.
Dr. Burghes takes great pride in his involvement in cloning gene therapy and muscular dystrophy during his postdoctoral work in Toronto. He is also proud of developing a dosage assay for SMA genes and producing one of the first SMA mouse models, which has been used in the development of every therapy that is now FDA-approved. He attributes his success to persistence. In the coming years, he has expressed a desire to write a book detailing the development of treatments for SMA, focusing on the journey of discovering and advancing these treatments. While he has begun conceptualizing the book, he has not yet started writing it, acknowledging that finding time for this project is challenging amid his other commitments. Currently, he is working on a project involving a depressor screen to elucidate the molecular mechanisms underlying SMA, seeking to understand how the deficiency of the survival of motor neuron protein and the loss of the SMN1 gene lead to the development of SMA. He aims to identify the critical function disrupted by the deficiency of SMN, challenging the notion that SMN has multiple functions and hypothesizing that it may have a single crucial function that is impaired in SMA, for which he is working to clarify this pathway.
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Wexner Medical Center – Arthur Burghes
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