SMS - Study of Somatic Mutations using Genome Sequencing

  • Research type

    Research Study

  • Full title

    SMS - Study of Somatic Mutations using Genome Sequencing

  • IRAS ID

    182435

  • Contact name

    Philip Jones

  • Contact email

    pj3@sanger.ac.uk

  • Duration of Study in the UK

    5 years, 0 months, 31 days

  • Research summary

    Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and include mutations caused by environmental factors such as ultraviolet light from sunlight or tobacco smoke affecting the skin or internal tissues, respectively. Other mutations may occur due to errors in copying the genome as cells divide. Improvements in technologies that read the genetic code have made it possible for all or selected parts of the genetic code of a human being to be "sequenced", allowing mutations (changes in the genetic code) to be detected.

    In our research, we will use samples of blood, skin biopsies, plucked hairs, urine, surplus tissue removed during future planned surgery, and archived samples removed in the past. We will find the order of DNA bases in the genetic code (sequencing) in the samples to help us understand how the number and type of cells with changes in their DNA is different in tissues depending on a person's age, their exposure to environmental agents, or other factors such as disease history or treatments such as radiotherapy.

  • REC name

    East of England - Cambridge East Research Ethics Committee

  • REC reference

    15/EE/0218

  • Date of REC Opinion

    14 Jul 2015

  • REC opinion

    Further Information Favourable Opinion