Cure SMA has awarded a $75,000 research grant Stephen J. Kolb at Ohio State University, for his project, “Arrested Development or Neurodegeneration? An approach to understand developmental motor neuron pathology in SMA”.
Dr. Kolb and his team will create a large animal model of newborn infants with SMA. They will use this model to understand the changes seen in motor neurons in infants with SMA. They will create this model by delivering a virus in utero to fetal piglets that will knockdown the expression of SMN. Once these piglets are born, they will study the motor neurons and determine if the findings are the same as in infants with SMA.
The proposed study will provide insights into our understanding of the timing of motor neuron degeneration in SMA. It will address the urgent question when SMN-increasing therapies, like Spinraza, should be given to infants with SMA in order to provide the greatest possible benefit.
Meet Dr. Kolb:
Who are you?
I am a physician-scientist, father of two young girls, and have been a nerd about the brain and how it works since high school. I am trained as an adult Neurologist and specialize in Neuromuscular Diseases with a focus on diseases that affect the motor neuron, including amyotrophic lateral sclerosis, SMA and hereditary neuropathies. On the research side, I work with an amazing team of researchers Ohio State to understand how motor neurons develop, are maintained, respond to injury and why specific gene mutations results in degeneration.
How did you first become involved with SMA research?
After completing my residency in Neurology, I had the great fortune of being a postdoctoral fellow in the laboratory of Dr. Gideon Dreyfuss who discovered the central biological function of the SMN protein. It was in his laboratory that I gained a full appreciation of the notion that motor neurons are be selectively vulnerable to errors in how DNA is converted into RNA and proteins.
What is your current role in SMA research?
I have been lucky to play roles clinically and in the lab. My laboratory works with collaborators at OSU to identify and characterize biomarkers in animal models that can be used to understand why and how SMA occurs and to help accelerate the pace of clinical trials in SMA. Most recently, I played a clinical role and led the NeuroNEXT SMA Infant Biomarker Study that has accelerated SMA drug development and has led to important insights about the disease.
What do you hope to learn from this research project?
We will create a large animal pig model of newborn infants with SMA. We will use this model to understand the pathological findings that are seen in motor neurons in infants with SMA. Once these piglets are born, we will study the motor neurons and determine if the pathological findings are the same as in infants with SMA.
What is the significance of your study?
This project will address the urgent question of timing to optimize delivery of SMN increasing therapies in infants with SMA, and allow us to predict the long-term success of these therapies by modeling the consequences of low SMN during fetal development.
Basic Research Funding
This grant to Dr. Kolb is part of $1.03 million in new basic research funding that we’re currently announcing.
Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.
$140,000 to Arthur Burghes, PhD
$75,000 to Jean Giacomotto, PhD
$140,000 to Christine DiDonato, PhD