Research on genetic susceptibility
Dr. Sharon Plon, professor of pediatrics – hematology oncology, is also taking advantage of advances in gene sequencing in her research.
Her research focuses on DNA sequencing to find gene mutations that make families susceptible to pediatric cancer.
Cancer susceptibility syndrome
Plon has also been involved with Dr. Lisa Wang in research on Rothmund-Thomson syndrome, which is a cancer susceptibility syndrome. They have previously shown that RTS patients who develop osteosarcoma carry deleterious mutations in the RECQL4 gene and her group has identified certain disease-causing mutations that are associated with mislocalization of the RECQL4 protein.