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Personal profile


I studied medicine at UoE and then trained in paediatrics in Edinburgh, Bristol and Glasgow.  I trained in clinical genetics in Glasgow as a Wellcome Trust Clinical Research Fellow and in Johns Hopkins Hospital in Baltimore on a Howard Hughes Medical Institute Clinical Research Fellowship.  I have been a consultant in paediatric genetics in Edinburgh since 1994. My clinical interests are in paediatric neurodevelopmental disorders and syndrome identification.  My research interests are in the identification of genetic causes of serious developmental disorders.   

Research Groups

The FitzPatrick Lab currently consists of

Dr Joe Rainger, Post doctoral fellow

Dr Morad Ansari, Post doctoral fellow

Dr Hemant Bengani, Post doctoral fellow

Dr Kathy Williamson, Post doctoral fellow

Jacqueline Rainger, Research Associate

Dr Kishan Aldridge, ECAT Fellow/PhD Student

David Sexton, MRC PhD Student 

Current Research Interests

Understanding Human Developmental Disorders

Developmental disorders (DD) are significant clinical problems that result from perturbation of embryogenesis or early brain development.  An understanding of DD, which is critical for adequate diagnosis, prognosis and management, requires both knowledge of the genes involved and how the gene products function as effectors of the specific developmental process.

We use new genetic technologies to identify new loci for DD. Knowledge of all highly penetrant loci - each with a distinct role in the perturbed developmental processes - should enable testable hypotheses to be generated regarding pathways or networks function of these gene products in normal development. 

Research Groups

Human Eye Malformations 

We have DNA samples from >850 individuals with with serious eye malformations; anophthalmia (absent eye), microphthalmia (small eye) and coloboma (failure of optic fissure closure). Genetic changes in the genes SOX2, OTX2, PAX6, STRA6 and chromosomal rearrangements account for 17%, 5%, 2%, 1% and 8% respectively. We are using new genetic technologies such as trio-based (mother, father & child) exome sequencing to identify new genetic causes in the 66% of families to whom we have not yet been able to provide an explanation.  

Cornelia de Lange syndrome (CdLS)

Cornelia de Lange syndrome (CdLS) is a genetic syndrome characterised by growth failure, neurocognitive impairment, limb malformation, complex medical problems and a characteristic facial appearance.  I am the medical director of the Cornelia De Lange syndrome foundation in the UK and we have DNA samples from >150 individuals with CdLS. Genetic changes in either NIPBL, SMC1A, SMC3, RAD21 or HDAC8 can be identifed in half the cases.  These genes are all involved in cohesin function which controls chromosome behavior at cell division and the activity of genes during development. We are using trio exome sequencing to identify new genes in typical and atypical CdLS cases. 

Pierre Robin Sequence

We have had a long-standing interest in the causes of orofacial clefts.  Pierre Robin sequence (PRS) is the most medically complicated forms of cleft palate.  Affected babies have obstructive apneoa as major part of the condition.  The primary problem in PRS relates to the growth and development of the jaw in embryonic life.  We have identified abnormalities in the long-range cis-regulatory control of two important DNA binding genes - SOX9 and SATB2 - as causes of PRS.


Administrative Roles

I am currently joint head of the Molecular & Developmental Section of the MRC Human Genetics Unit

Education/Academic qualification

Doctor of Medicine, University of Edinburgh

Award Date: 1 Jan 1991

Bachelor of Medicine and Bachelor of Surgery, University of Edinburgh

Award Date: 1 Jan 1984


  • RJ101 Child Health. Child health services
  • QH426 Genetics


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