Helen McNeill, PhD

BJC Investigator, Larry J. Shapiro and Carol-Ann Uetake-Shapiro Professor, WashU Developmental Biology

Understanding how Fat cadherins and the Hippo pathway regulate growth and patterning

One major focus of my lab’s research is to understand the function of Fat4. Mutations in Fat4 lead to Van Maldergem syndrome, which is associated with intellectual disability, typical craniofacial features, epilepsy, auditory malformations resulting in hearing loss, skeletal and limb malformations and renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. My lab collaborated with clinicians to investigate how Fat4 mutations lead to neural defects in mouse models (Capello et al., Nature Genetics, 2013,).  We have also explored how mutations in Fat4 lead to defects in neuronal migration. In parallel, we study Fat and Hippo function in Drosophila, where most of our analysis center on photoreceptors in the eye. Another focus of our work is on how Fat interacts with Atrophin, a gene that is associated with human DRPLA, a neurodegenerative disease.  At the moment, we are focusing in our work on mouse Fat4 on the retina and brain, and Drosophila Fat in photoreceptors.

More about the McNeill lab