MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

David FitzPatrick Research Group

Genetic Causes of Developmental Disorders

Professor David FitzPatrick - Joint Section Head: Disease Mechanisms

Joint Section Head: Disease Mechanisms

Research in a Nutshell 

My research identifies genetic changes that result in abnormalities of development in early pregnancy. In particular we study birth defects affecting the eye, the face and the brain in children. Knowledge of how these genes go wrong helps us understand normal development, can help in the child’s on-going treatment and may in the longer term help prevent other children having similar problems.


Research Programme




Professor David FitzPatrick  Group Leader

Angela Sandilands

Clinical Data Manager
Nikki Hall ECAT Fellow

Alex McDonnell

MRC DTP PhD Student

Hemant Bengani

Research Fellow

Jacqueline Rainger

Research Fellow

Kathy Williamson

Research Fellow

Robert Foster

Research Fellow

Jamie Campbell

Clinical Fellow

Liusaidh Owen

PhD Student

Brianda Hernandez Moran

PhD Student



  • Professor Colin Semple, University of Edinburgh 
  • Professor Martin Taylor, University of Edinburgh 
  • Professor Helen Firth, University of Cambridge
  • Professor Matt Hurles, University of Cambridge

Partners and Funders

  • MRC
  • EU
  • Wellcome Trust Sanger Institute

Scientific Themes

human development, eye, malformation, mutations

Technology Expertise

filtering human exome and genome sequence output, CRISPR/Cas9 in mouse embryos