An international team of researchers led by Scottish Rite for Children scientist Jonathan Rios, Ph.D., recently discovered a gene contributing to clubfoot. Their findings were published in the journal Human Molecular Genetics. In the largest study of its kind ever conducted for clubfoot, the team tested more than seven million genetic markers in roughly 8,000 individuals, identifying an association with the gene FSTL5. Prior to this study, little was known about FSTL5. However, through further investigation, the team found that this gene plays important roles in bone and, potentially, nerve development. Results from the study also suggested that many genes contribute to the development of clubfoot. Rios’ team is already planning a second, larger study to follow-up on additional genes identified from their initial effort.

Isolated clubfoot is a relatively common foot deformity diagnosed and treated by experts at Scottish Rite. Although many genetic factors are predicted to contribute to clubfoot remain to be discovered, our scientists and clinicians are working together to better understand how and why clubfoot develops in some children. “Studies like this one allow us to search the entire genome in an unbiased manner to identify genes that contribute to the development of clubfoot,” says Rios, assistant director of Molecular Genetics at Scottish Rite. 

Chief Medical Officer B. Stephens “Steve” Richards, M.D., was a co-author on the study. “Studies of this scale and the discoveries that result from them are exactly why Scottish Rite is committed to research innovation,” says Richards. “Clubfoot is a treatable condition. By discovering genes contributing to clubfoot through these innovative, powerful and collaborative studies, we may be able to better treat this condition in so many children. Scottish Rite is unique in that our clinicans work so closely with our scientists, which really drives our ability to make new discoveries that we hope will impact how orthopedic conditions are diagnosed and treated in the children we see every day.”

Learn more about the translational research ongoing in Rios’ laboratory.

Jonathan Rios, Ph.D., also serves as an Associate Professor in the Eugene McDermott Center for Human Growth and Development, the Departments of Pediatrics and Orthopedic Surgery, and is a member of the Simmons Comprehensive Cancer Center at UT Southwestern Medical Center. Dr. Richards is a Professor in the Department of Othopaedic Surgery at UT Southwestern Medical Center.