HUNTINGTON, W.Va. - After three decades of studying the causes of endometriosis, a Marshall University Joan C. Edwards School of Medicine researcher is taking a closer look at a molecular regulator that could help explain how the disease develops and potentially lead to earlier diagnosis and new treatment approaches. 

Nalini Santanam, Ph.D., MPH, professor in the Department of Biomedical Sciences at the Joan C. Edwards School of Medicine, has received a $590,000, four-year grant from the National Institutes of Health’s Eunice Kennedy Shriver National Institute of Child Health and Human Development to study the role of CXCR4 in endometriosis.  

The project, “CXCR4 Regulation: Methylation Dynamics in Endometriosis,” will examine whether changes in the way the CXCR4 gene is regulated contribute to the development of endometriosis and whether those changes could eventually serve as a biomarker for earlier diagnosis or a target for non-hormonal treatment. 

Endometriosis is a chronic disease in which tissue similar to the lining of the uterus grows outside the uterus. It affects an estimated 10% of women of reproductive age and can cause chronic pelvic pain, infertility and significant impairment in quality of life.  

Despite its prevalence, the precise causes of endometriosis remain unclear, and diagnosis can be delayed. Current diagnostic approaches can be invasive, and treatment options do not work for every patient. 

“Endometriosis remains a significant challenge because we still do not fully understand what causes the disease or why it develops in some women,” Santanam said. “Our goal is to better understand the molecular mechanisms involved in endometriosis so we can identify new ways to detect the disease earlier and develop more targeted treatment approaches.” 

CXCR4 is a molecular regulator involved in several processes that may contribute to endometriosis, including inflammation, cell migration, immune response, blood vessel formation and the movement of stem cells. Previous research from Santanam’s laboratory and other researchers has shown that CXCR4 is involved in the migration of endometrial cells and stem cell trafficking associated with the formation of endometriotic lesions. 

The new study will investigate whether abnormal methylation of the CXCR4 promoter — a region that helps regulate whether a gene is expressed — contributes to these changes. 

 Researchers will examine CXCR4 methylation in human endometriotic lesions and determine whether patterns differ according to the type and stage of endometriosis. The study also will examine how other molecular mechanisms regulate CXCR4.  

 The research builds on more than 30 years of work by Santanam’s laboratory investigating the etiology of endometriosis. Her research program includes collaboration with faculty physicians from the Department of Obstetrics and Gynecology at Marshall Health Network, including Brenda Mitchell, M.D., Kristin Sinning, M.D., and Emily Sloane, M.D., as well as clinical research coordinators.  

The NIH R16 award also will create opportunities for undergraduate students to participate in biomedical research. Students will receive hands-on experience with advanced research techniques, including methods used to study DNA methylation and gene regulation, while contributing to a clinical-translational research project focused on a significant women's health condition. 

“Our laboratory has continued to build on what we learn about endometriosis, and each new discovery opens another door to understanding this complex disease,” Santanam said. “This NIH award allows us to take the next step in that work. It is especially meaningful to be able to continue this research at Marshall while involving undergraduate students in the process. Giving students the opportunity to contribute to research that could ultimately improve how endometriosis is diagnosed and treated is an important part of the work we do.” 

The project is funded from Sept. 1, 2026, through Aug. 31, 2030, under NIH award No. 1R16HD122676-01. 

Date Posted: Monday, October 5, 2026