Single gene disorders are typically rare but in aggregate account for a sizeable fraction of morbidity in the community. The era of large-scale DNA sequencing has brought an unprecedented opportunity to define their cause and study their pathogenesis.
We have a particular interest in a group of disorders called the filaminopathies. These are caused by mutations in a family of genes encoding proteins called filamins. Somewhat unexpectedly, mutation in one of the filamin genes causes both disorders of brain development and bone development. Our evolving interest has led to a programme of research that studies the development of both of these organ systems. Insights gained from these disorders have filled gaps in understanding how bone develops in response to chemical and mechanical forces, and in parallel how stem cells in the brain produce neurons that build the human cerebral cortex.
Other research relates to studies on the structure and function of the gastrointestinal tract and also the practicalities of drawing genomics into clinical practice, especially in Paediatrics.
We have close links with clinicians worldwide who submit samples to our research programme, making clinical translation a key component of our work. Insights gained from our studies have the ability to define risk of recurrence, and prognosis, for the families affected by these disorders.
Ongoing studies of the mechanisms by which these genetic defects lead to developmental diseases will further inform the development of therapeutic strategies for more common diseases.
Nature Genetics, 45(11), 1300-1308
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