Researcher:
Susan Dorsey, PhD, RN, FAAN, professor
Areas of Expertise:
Dorsey’s neuroscience research specializes in the molecular, cellular, and genetic mechanisms that influence the symptoms and self-management of chronic pain, a condition that impairs more people than cancer, heart disease, and diabetes combined. Relieving chronic pain costs the U.S. more than $600 billion annually, though few effective treatments exist that do not significantly disrupt quality of life. Dorsey is one of the earliest scientists to incorporate transcriptomics — the study of the full set of RNA instructions within a cell — to understand their role in cellular processes and the development of disease. Her research seeks to identify new therapeutic targets and biomarkers to better predict a patient’s risk for chronic pain and other health disorders.
Dorsey’s translational research lies at the intersection of bench science and clinical care and has led to nearly $30 million in National Institutes of Health (NIH) funding as principal investigator or co-investigator, as well as numerous publications, honors, and awards.
Dorsey joined UMSON in 2004 and served as founding chair of the Department of Pain and Translational Symptom Science from 2014 - 22. She was also the founding co-director of the UMB Center to Advance Chronic Pain Research and assisted in securing funding from the National Institute of Nursing Research to create it.
The Big Idea:
In April 2003, publication of the first comprehensive map of the human genome — the complete sequence of DNA codes in a human cell — revolutionized scientific discovery and fundamental understanding of human biology. With this singular breakthrough, scientists unlocked the molecular template that controls how humans develop and perform, enabling regimented studies of gene function.
While genomics studies an organism’s entire set of DNA, its allied science — transcriptomics — probes the RNA instructions that have been “transcribed” from a cell’s DNA codes and that regulate the body’s biological processes. By exploring how and when genes are turned on or off or altered in cells, researchers are learning the mechanics of how genes express themselves in the form of cancer, diabetes, heart disease, and other diseases. What’s more, that knowledge is a promising tool for developing vital targeted therapies
Why does the research matter?
Autism is a neurodevelopmental disorder that produces a spectrum of deficits in social interactions, including impaired language, intellectual disability, loss of interest, anxiety, and seizures. Recent studies have revealed that autism, typically diagnosed around age 2, can arise before birth during the early growth of a fetus. Though scientists don’t yet understand the underlying neurological mechanisms of autism, nor whether it is a single disorder or multiple disorders with common features, “it is generally assumed that dysregulation of one or more genes, due to either genetic variants or exposure to environmental stressors, underlies the development of the autistic brain,” says Dorsey along with University of Maryland School of Medicine colleagues in a recent study published in the journal Translational Psychiatry.
While most autism cases are inherited, the authors explain, “many cases have been linked to in-utero exposure to environmental factors such as pharmaceuticals, air pollution, insecticides, and maternal infection.”
For example, autism increasingly has appeared in children of women who take the anti-epileptic, mood-stabilizing drug valproic acid (VPA), more commonly known by its trade names Stavzor or Depakote, during pregnancy. In their August 2024 study, funded by a $424,000 grant from the National Institute of Environmental Health Sciences, Dorsey and her team gave pregnant mice a single injection of VPA at a crucial time for fetal brain development to explore how VPA might alter gene functioning. After their analysis identified more than 7,000 genes whose regulation was significantly affected by VPA, the researchers narrowed those to nine genes also known to influence neurodevelopment in humans. That “short list,” the authors propose, is a “potential starting point” for future studies to determine whether VPA’s disturbances to gene functioning contribute to autistic-like behavior in animals.
Who does the research matter to?
The research is important to anyone experiencing a health condition, their affected families or caregivers, and researchers seeking crucial therapies. With the advance of transcriptomics, scientists once limited to the time-consuming task of investigating cell functioning gene by gene now can investigate an entire set of a cell’s RNA instructions.
What are the clinical applications of the research?
Dorsey is analyzing transcriptomics data to generate new hypotheses about how disturbances in gene expression can lead to disease. Specifically, she is exploring how genes influence the molecular signals that trigger chronic pain across three populations: sufferers of low-back pain, those with trauma from lower-extremity fractures, and those who have facial and neck pain from temporomandibular disorder. Funded by $6 million in multiple NIH grants, the work aims to identify early biomarkers of patients who are likely to transition from acute to chronic pain, such as following surgery. Testing blood, urine, or saliva to uncover signs of one’s susceptibility to chronic pain and other health disorders is “an evolving science,” Dorsey explains, expanding the potential to intervene with new preventive therapies.
