Peter Scambler

Trustee

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 may be accessed at UCL's Institutional Research Information Service.

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.