Research project underway on orthopedic birth defects

The Washington University in St. Louis School of Medicine has a research project underway with a goal of better understanding the possible genetic links behind certain orthopedic birth defects. The project is being led by Christina Gurnett, an assistant professor of neurology and pediatrics. Gurnett and team will be evaluating children who are being treated for congenital limb differences at St. Louis Children's Hospital's orthopedic clinic.

From the press release:

Gurnett is collaborating with Matthew Dobbs, M.D., associate professor of orthopaedic surgery. Together, they have established a DNA databank of musculoskeletal disorders that includes more than 700 DNA samples of patients with clubfoot; scoliosis; kyphosis, a curving of the spine that causes a bowing of the back, which leads to a hunchback or slouching posture; congenital vertical talus, a common cause of rigid flat foot; triphalangeal thumb, where the hand has another finger in place of a thumb; polydactyly, which causes the hands to have more than five fingers; and patients with other limb abnormalities.

Gurnett's objective is one that will certainly strike a cord with those who have children with limb differences and those who are living with a congenital deficiency.

One large family Gurnett is working with has a history of split hand malformation, a congenital limb malformation characterized by a deep cleft of the hand. Gurnett and her colleagues set up a genetics pedigree chart that shows which family members had the cleft hand.

"The third-generation women in this family are fearful of having children," Gurnett said. "We want to find the gene to help them determine their children's odds of having the disorder so we can find a way to prevent it. We may not find it the next day or the next week, but maybe in five to 10 years we will be able to use our advances in the lab to help patients in the clinic."