Brain Development and Developmental Disorders. How the brain develops is inherently interesting. Abnormalities in brain development can cause a wide range of disorders. We use genetics to understand both the development of normal brains and the mechanisms of genetic brain disorders.
Mechanistic Studies of Genetic Findings. Human and experimental genetics finds many genes associated with disease or non-disease traits. How these genes influence a trait is often not clear, leaving an opportunity to learn something new. We use animal and cell culture models to dissect mechanisms for both normal and disease biology.
Genetic modifiers. The phenotype caused by a specific mutation can vary, sometimes wildly, between individuals. Sources of variation can be genetic (modifier genes) or non-genetic (environmental and stochastic effects). We are interested in modifier genes–genetic variations that change the outcome of disease genes–as a way to understand and control developmental pathways.
Genes of unknown function. A large fraction of mammalian genes still lack functional annotation. We are interested in de-orphanizing novel genes. As an example, we recently made parallel mutations in mouse, fish, and fly homologs of Nmf9, a gene of uncertain function that we identified in mice with vestibular abnormalities.