My research has been into syndromes associated with physical and developmental disabilities. We have elucidated the genetic mechanisms underlying several disorders. We have a particular interest in mosaicism and in genotype-phenotype correlation in Williams syndrome. Close integration of my clinical and academic work is important since we aim to rapidly translate research findings into clinical practice. I have always been interested in public engagement and involvement and have links with many patient groups as well as leading the Nowgen project from 2002-2014. I particularly enjoy travelling and facilitating diagnostic sessions and contributing to education in my field of genomic medicine.
We have somehow managed a two-career, two-children partnership, not by careful planning but by taking opportunities when they arose. In earlier years our moves were decided by my husband's career but after our children were at school the whole family have been supportive of the increasing demands of my career. As time has passed I have travelled more with my job and taken on new challenges such as being Clinical Head (Medical Director) of my hospital St Mary's in Manchester. However the demands of childcare are returning with grandma duties weekly!