Dr Karen Low is a consultant Clinical Geneticist currently working as a fully NHS clinician with an interest in rare paediatric genetic syndromes.  She has particular expertise in a number of rare conditions including KBG Syndrome, PUF60 related syndrome and HUWE1 related intellectual disability.  

 

In this doctoral research fellowship, funded by the NIHR, Karen will aim to document growth and development in these rare conditions in order to tailor clinical decision making for these children. This will be in collaboration with the prestigious DECIPHER team at the Sanger Institute.   Karen will also be exploring whether we can use parent reported information to improve our understanding of these conditions.  In conjunction with Professor Ian Nabney from the school of Computer Science, Karen will be exploring whether novel machine learning can be used along with the parent reported information for improved care. 

 

Karen is looking forward to taking on this larger novel study hoping to improve the care of children with rare genetic syndromes.  Karen feels strongly that parents of these children know so much about their children's conditions but that this isn't being utilised and hopes that this study will find the best way to use their expertise. 

 

Congratulations from everyone in CACH.