• Dr Fiona Cunningham

    European Molecular Biology Laboratory, United Kingdom

  • Dr Helen Firth

    Cambridge University Hospitals NHS Foundation Trust, United Kingdom

Project summary

About 6% of individuals have rare genetic disorders, sometimes affecting only dozens of people globally. DECIPHER?s main aims are to enable doctors and researchers worldwide to work together to understand these disorders, to identify new disease-associated genes and potentially to develop new therapies. Our website lets clinical geneticists enter patient data securely and search existing data to find matches amongst other patients with similar rare genetic changes or disorders. A match can provide information on patient outcomes and sometimes a diagnosis or possible treatment. As more genomes are sequenced, we have increased opportunities to find matches between individuals with genetic disorders. Furthermore, we can use information on genetic variation in the wider population so common genetic changes can be ruled out as causes of particular disorders. Our project is truly global: currently, geneticists across more than 200 approved centres in around 40 countries are contributing their patient data to DECIPHER.