NIH Awards Predoctoral Fellowship To Kristin Watt
Kristin Watt, a graduate student in Stowers Investigator Paul Trainor’s lab successfully competed for a Ruth L. Kirschstein National Research Service Award (NRSA), which is awarded by the National Institutes of Health to outstanding predoctoral fellows. Watt will receive $62,800 over three years for her studies into the causes of Treacher Collins syndrome, a severe birth defect that leads to malformation of the eyes, ears, and facial bones.
Treacher Collins syndrome (TCS) affects approximately one in fifty thousand live births and is associated with mutations in TCOF1, POLR1C, and POLR1D. Mutations in TCOF1 disrupt the development of neural crest cells, a population of cells which generate most of the cartilage, bone, and connective tissue in the head and face. The mutations explain the link between disrupted neural crest cell development and craniofacial malformations.
Less is known about the role of mutations in POLR1C and POLR1D, and Watt plans to use zebrafish as a model system to investigate their contribution to the pathogenesis of the disease. “We already found that mutations in the fish versions of these genes mimic the characteristic cranioskeletal abnormalities seen in human patients,” says Watt. “We are hoping that a better understanding of their function during development will highlight important avenues for the potential prevention of TCS.”