Studying the Genetics of Malformations in Children

Genomic medicine holds promise to deliver specific diagnoses for an increasing number of clinical conditions in paediatrics. Leveraging from this improved diagnostic capability will be an increasing understanding of how these conditions evolve and the development of strategies to treat or even circumvent them. Challenges that may frustrate the implementation of this vision in Aotearoa include a lack of understanding of how described genetic variants lead to these disorders, how they might be possible treated and also how to implement clinical genomics accurately, equitably and successfully in our local environment. In Aotearoa in particular, an equity gap for the delivery of this medicine is apparent and several critical evidence gaps exist that need to be addressed to help remedy this situation. In this programme of work these challenges will be addressed at a number of levels. We will continue to expand our study of specific genetic conditions for which we are acknowledged experts, we will address translational opportunities that arise out of study of these disorders, and evaluate technical and implementational issues that contribute to genomic health inequities in our country. Our programme also aims to build human capability in this research space through the mentorship of early career researcher trainee doctors and postgraduate students.