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.
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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.
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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.
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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.
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