I am interested in the genetic and epigenetic factors which control how babies and children develop, and the interactions between them. I study these factors both in the context of normal development, and when this developmental trajectory has changed – resulting in a developmental disorder. I hope that by understanding these mechanisms better we may be able to develop new treatments for these conditions.

Genes act as a code which is ‘read’ to make proteins, the building blocks of cells. Currently, we do not properly understand our genetic code. We all carry genetic changes, but most do not cause problems. In a genetic condition, a change in this code changes the function of a protein, altering a child’s development. We check a person’s genetic code when we suspect a genetic condition. Unfortunately, we cannot always predict which genetic changes, or variants, will alter a protein’s function. Therefore, it can be difficult to decide whether a child’s difficulties are due to the genetic changes observed. This often makes diagnosis difficult. This is particularly true in young children or unborn babies, as their difficulties may not yet be fully known. However, diagnosing children when they are young can improve treatment and reduce the disability caused by a genetic condition.

Currently, I am using a variety of approaches to improve the interpretation of genetic variants in neurodevelopmental disorder associated genes, and to translate these data into greater clinical diagnostic certainty. My doctoral research focussed on epigenetic plasticity in the context of normal development and developmental programming across generations.

Research projects

Transforming diagnostic confidence in neurodevelopmental disorders using CRISPR-based saturation genome editing