Full Study Name

INSIGNIA – Exploring the biological processes underlying mutational signatures identified in patients with inherited disorders and in patients exposed to mutagens

Local Principal Investigator

Professor Jill Clayton-Smith

Study Status


Main Aims

The purpose of this study is to understand how and why damage accumulates in DNA.

Almost all the cells in the body contain a copy of the human genetic code (or DNA).  This DNA is constantly damaged and this can lead to errors in the genetic code. Usually, these errors are corrected by a person’s DNA repair toolkit that exists in cells. Occasionally, some errors are missed or become permanent changes. These changes are called mutations.

We are studying mutations that have built up in cells to understand how and why they cause health problems like cancer, brain diseases and aging.

Inclusion Criteria

Patients with the following:

  1. Genetic disorders:
  • Bialellic mismatch repair syndromes
  • Recessive FAP
  • Cockayne Syndrome
  • Cerebro-ocular-facio-skeletal syndrome/Pena-Shokeir
  • UV-sensitive syndrome
  • Trichothiodystrophy
  • BRCA1
  • BRCA2
  • Lynch
  • Li-Fraumeni
  • Bloom Syndrome
  • Werner Syndrome
  • Rothmund-Thomson
  • Baller-Gerold Syndrome
  • Ataxia-oculomotor-apraxias 1 and 2
  • Fanconi anaemia
  • Nijmegen Breakage Syndrome
  • Seckel syndromes
  • RIDDLE syndrome
  • Hutchinson-Gilford Progerias
  • Any of the progerias
  1. Fetal exposures:
  • Fetal alcohol syndrome
  • Fetal warfarin syndrome
  • Fetal valproate
  • Any fetal exposure (including infection)
  1. Adult exposures:
  • Chernobyl
  • Sellafield
  • Any exposures
Exclusion Criteria

Those individuals not matching the above inclusion criteria.

Open Sites

Aberdeen, Belfast, Birmingham, Bristol, Cardiff, Cambridge, Dundee, Edinburgh, Exeter, GOSH, Glasgow, Guy’s, Leicester, Leeds, Liverpool, Newcastle,  Nottingham, North West London, Oxford, Sheffield, Southampton, St Marys Hospital -Manchester, St George’s, Royal Marsden

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