UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health

Prof Peter Scambler

Prof Peter Scambler

Emeritus Professor of Molecular Medicine

UCL GOS Institute of Child Health

Faculty of Pop Health Sciences

Joined UCL
1st Oct 2022

Research summary

Our goal is to elucidate the genetic and developmental basis of congenital malformations. The majority of our work is currently focussed upon cardiovascular development. Previous and current work indicates that analysis of human congenital malformation can uncover novel genetic mechanisms and offer insights into general mechanisms of development and even common disease. For instance, the deletion 22q11.2 causing a birth defect syndrome is the greatest known genetic risk factor for schizophrenia (previously known as DiGeorge syndrome).   Three genes under investigation (Tbx1, Chd7 and Hira) have roles in control of transcription within progenitor or stem cell populations.  Others, e.g. Semaphorins, Slits, and CXCL12 are involved in intercellular signalling.  In particular, the CXCL12 pathway is involved in the development of the coronary arteries and this pathway is of interest in the development of new therapies designed to assist revascularization.

The tools used include creation and analysis of models in mouse and zebrafish, and the use of cell line models such as modified embryonic stem cells and neural crest cells. We explore novel methods of imaging the phenotypes observed (in collaboration with UCL's CABI). 

In humans, genetic approaches include high resolution, genome-wide, screens and sequencing, in particular making use of consanguineous families. We also collaborate across non-life science faculties via the CoMPLEX programme.

Teaching summary

I manage two 4 year PhD programmes funded via the British Heart Foundation.  One is run through UCL CoMPLEX and is specifically designed to bring non-life scientists and cardiovascular biologists together for innovative projects. The first year of this course is essentially the same as that for all CoMPLEX students.

The second is for more standard, biologically orientated PhDs. The first year is run alongside the UCL-ICH MRes scheme.


University of Manchester
Doctorate, Doctor of Medicine | 1986
University of Manchester
Doctorate, Bachelor of Medicine, Bachelor of Surgery | 1982
University of Manchester
First Degree, Bachelor of Science (Honours) | 1979


Professor Peter Scambler qualified in Medicine at the University of Manchester, UK, in 1982.  Following internship he moved to St. Mary’s Hospital Medical School, London to join Prof. Bob Williamson’s team on the cystic fibrosis genetics project where he stayed until the end of 1992.  While failing to identify CFTR ahead of the North Americans, he developed an interest in congenital malformation syndromes, and began work on DiGeorge syndrome (now 22q11.2 deletion Syndrome) while still at St. Mary’s.  In 1993 his team moved to the Institute of Child Health-UCL, Gt. Ormond St. Hospital for Sick Children (GOSH), London and formed the “Molecular Medicine Unit”.  He became Professor of Molecular Medicine in 1995, theme leader for “Genes, Development and Disease” in 1998 and deputy director of the Institute 2003-2013.  He was elected to the Academy of Medical Sciences in 2001.  The Unit’s work has expanded to study the genetic and developmental basis of several human birth defects and published output mat accessed at http://iris.ucl.ac.uk/iris/browse/profile?upi=PSCAM65. Most recently, efforts have concentrated upon congenital cardiovascular defects seen in 22q11.2 deletion and CHARGE syndromes, with collaborations investigating other organ systems.  He was awarded the Angelo DiGeorge medal in 2010.  Following reorganization of ICH he is section head for "developmental Biology of Birth Defects"