David R. Fitzpatrick

David FitzPatrick is an academic paediatric geneticist based in at the MRC Human Genetics Unit at the University of Edinburgh.  He leads a lab-based research group focused on understanding the genetic basis of developmental disorder and is joint head of the Disease Mechanisms Section.  He is a graduate of the University of Edinburgh Medical School and trained in paediatrics and clinical genetics the Royal Hospitals for Sick Children in Edinburgh, Bristol and Glasgow.  He was a Wellcome Trust Clinical Training Fellow at the University of Glasgow and subsequently a Howard Hughes Clinical Research Training Fellow with Professor David Valle at Johns Hopkins Hospital in Baltimore.  He returned to Edinburgh as a consultant in Clinical Genetics in 1994 and moved to the MRC Human GU in March 2000.

He has a long-standing research interest in the genetic causes of severe developmental disorders.  In particular he has worked on finding disease loci for major eye malformations: identifying the major cause as heterozygous, de novo, loss-of-function mutations in SOX2.  Whole exome sequencing has enabled the identification of several novel loci such as YAP1 and MAB21L2 for severe bilateral coloboma.  David FitzPatrick is also one of the leads on the large-scale, UK-wide, trio-based exome sequencing project Deciphering Developmental Disorders (DDD).  This project has collected biological samples and phenotypic data on 14,000 probands with developmental disorders (10,000 with sample from both parents).  His specific interest within DDD is the development of the DDG2P reporting pipeline and the identification of discriminative phenotypic patterns that can predict particular disease genes.

A common theme of this work is the requirement for innovative uses of genetic technologies to identify and validate causative mutations affecting the structure or regulation of individual genes.