With 1 in 50 people in European countries affected by inherited monogenic disease, genomic medicine is a priority area for health systems globally. Our Genomic Medicine theme drives the translation of experimental medicine studies into patient benefit through the development of genetic diagnostic tools for disease identification. Moreover, understanding the genetic contribution to common disorders provides opportunities for patient stratification, predicting response to therapy and effective therapeutic target validation.

These aims are delivered through 3 programmes:

  • Programme 1. From genomes to mechanisms of human disease
  • Programme 2. Genomic interactions, a pipeline for risk analysis and therapeutic stratification
  • Programme 3. Genome classification and therapeutic analysis

Example projects

  • Cost-effective cancer monitoring Acute myeloid leukaemia (AML) is an aggressive blood cancer affecting more than 3000 individuals in the UK annually, in whom fewer than half survive. In partnership with Genomics Innovation Unit at GSTT, we have developed a new and cost-effective diagnostic test based on rapid, inexpensive Oxford Nanopore sequencing that can rapidly identify six disease-causing mutations that together affect about 60% of AML patients (Li S et al., 2016, Nat Med. 22(7):792-9) and, crucially, can inform treatment choice within a critical timeframe.

 

  • The COVID Symptom Study (CSS) When the COVID-19 pandemic emerged, Professor Spector and Dr Steves (TwinsUK) identified the need to monitor and address the crisis, in real-time and at large-scale. Bringing together front-line clinical experience, epidemiological expertise in cohort studies, and machine learning/big data (Imaging theme – Ourselin), they developed the Covid Symptom Study (CSS) smartphone app which uses the PREDICT framework from health data science company, ZOE, enabling rapid and wide-spread dissemination across UK, USA, and Sweden.  Data from millions of app contributors confirmed that symptoms like loss of smell (anosmia), fever, and cough could predict whether someone was likely to have COVID-19, even without a test (Menni C et al. (2020) NatMed. 26(7):1037-1040).

 

  • Polygenic Risk Score (PRS) for Ankylosing spondylitis (AS) Ankylosing spondylitis (AS) is a debilitating form of arthritis causing progressive irreversible stiffness and increased early mortality. Delay in diagnosis leads to irreversible spinal damage. Our researchers have developed a low-cost test that takes into account multiple genetic risk markers to generate a Polygenic Risk Score (PRS) that can be used to identify people at high disease risk to enable earlier, more effective treatment of the disease (Li Z. et al. (2021), Ann Rheum Dis. 80(9):1168-1174).