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A Signal of Hope for Pediatric Neurodevelopment Disorders

Josh Bonkowsky

Every day, as Josh Bonkowsky, MD, PhD, cares for his young patients and their families, he is motivated in pushing his research forward to ultimately improve treatments for their disorders. As a pediatric neurologist specialist, being on the frontlines of patient care was the catalyst for the “Aha” moment that revealed an original approach to better understanding the nervous system and how the brain circuitry develops and functions.

For Bonkowsky, receiving the prestigious New Innovator Award from the National Institutes of Health, validated that “he is on to something.” For those who suffer from neurodegenerative diseases, particularly children, this award signals “Hope.”

A mere 50 visionaries across the country received the $1.5 million award, empowering them to transform scientific fields and speed the translation of research into patient care.

In short, Bonkowsky’s research uses an innovative technology that activates gene expression when cells make contact. His team of researchers is using this innovation to map neural circuits and characterizing nervous system reorganization following injury.

Patients throughout the world are benefiting from Dr. Bonkowsky’s work,” said Ed Clark, chair of the Department of Pediatrics at University of Utah School of Medicine. “He exhibits the drive for excellence and desire to find answers that makes him a true innovator.

Q & A

Reaction when you won? I found out that I had received the award this past August, in between seeing patients in clinic. I was pretty excited—it was a huge validation for my team and me. There are times when you wonder if anyone else believes in what you are doing or maybe they think you are just off on a tangent that is going to end up nowhere. The award was a sign to me that I’m really onto something and that the research is unique and truly innovative.

The light-bulb moment? I recall exactly when the idea came to me. I was falling asleep in a scientific lecture on gene expression, when I started wondering about ways that would allow us to see the partners—the interactions—of each nerve cell. It made me start thinking about new ways of labeling cells in order to see when they are making contact with each other. The problem kept bugging me for five years.

Lure to the nervous system? Staring in the early 1990s I got hooked on wanting to better understand the development of the nervous system. I was working with a professor at University of California, San Diego (UCSD) on fruit flies, and really fell in love with the cool genetics and ability to see how the neurons connected to each other.

The nervous system is very complicated, even in the simplest of organisms. Each nerve cell knows its job; but we don’t know how each nerve cell knows what it is supposed to do. We have only a vague idea of how all these cells are connected. The nervous system is like a big computer; if it is not all in sync where everything is hooked up correctly, then it won’t work.

The real power in biology is if you can genetically look at a nerve cell. But the challenge is that you cannot see what cells are connected to other cells. With current technology you might recognize a brain cell, but not know if it is connected to a cell in the spinal cord. It is like picking up a cable in a dark room and not knowing if it is the cable that hooks into the stereo, the TV, or the VCR. Keep in mind, under a microscope you may be looking at thousands of cells.

Your “Innovative” approach? It involves a tricky genetic method—whenever two cells are closely connected, you turn on or light up the cell with a colored fluorescent protein in order to recognize that cell. For our experiments we are using zebrafish, which is a laboratory animal model. In these zebrafish we are able to do experiments where one cell might be a fluorescent green, signifying it is the cell that tells the fish to swim, which may in turn connect or interact with a red fluorescent nerve cell that tells the zebrafish to turn its eyes.

Significance for patients? For example, for a child with cerebral palsy there are no treatments. We know there is damage to the brain but we don’t know how it results in stiffness in certain parts of the body. If we could develop techniques to see which cells are not connected correctly, then eventually we could determine which cells are missing from that area and direct our therapy accordingly. Right now, we cannot even see which nerve cells are missing. Of course, this is our long-term hope with this research.

The next five years? We want to take the research from studying a relatively simple animal like zebrafish to studies in the much more complex mouse nervous system. In fact, the same genes and nerve cells in zebrafish have similar roles in mice, and in people. What we learn in zebrafish, and in mice, can help people. Eventually, we hope to use these kinds of technologies to develop new therapies for children.

The pull to pediatric neurology? I’ve had friends ask me, ‘why did you choose to go into a specialty that can be so depressing?’ But the point is, these are the patients who needs help the most. Hope in this field comes from the long-term investment of care and research—it takes years and years to see progress. It’s a challenging field with a lot of diseases and not many treatments.

Why Utah?

I like it here. There are lots of collaborations across disciplines and faculty and a lot of scientific work going on. I get to collaborate with neonatologists, genetic specialists in pediatrics, and those in human genetics, even though my own lab is in neurobiology and anatomy.

When I look at all the research going on here, Utah is a diamond in the rough—it hasn’t been recognized yet. I truly believe the research we have going on here is laying the groundwork for future treatments in all sorts of areas.