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 

We are interested in finding the genetic causes of severe abnormalities that can occur in early human pregnancy. We focus on problems affecting the development of the eye and the brain in children. By studying the clinical and genetic problems together we can identify particular feature that can influence the child’s on-going treatment and may in the longer term help prevent other children having similar problems.




Professor David FitzPatrick  Group Leader

Angela Sandilands

Clinical Data Manager
Nikki Hall ECAT Fellow

Alex McDonnell

MRC DTP PhD Student (joint with Greg Kudla)

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
Michael Yates Clinical Fellow



  • Professor Colin Semple, MRC Human Genetics Unit, University of Edinburgh 
  • Professor Martin Taylor, MRC Human Genetics Unit, University of Edinburgh 
  • Professor Wendy Bickmore, MRC Human Genetics Unit, University of Edinburgh 
  • Dr Greg Kudla, MRC Human Genetics Unit, University of Edinburgh 
  • Professor Helen Firth, University of Cambridge
  • Professor Matt Hurles, University of Cambridge
  • Prof. Dr Frank Kaiser, Institute of Human Genetics, Essen

Partners and Funders

  • MRC
  • EU
  • Wellcome Trust Sanger Institute
  • NHS Lothian / National Services Division

Scientific Themes

human development, eye, malformation, mutations

Technology Expertise

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