Genetics & Genomics

The NIHR Imperial Biomedical Research Centre (BRC) aims to improve the diagnosis of hereditary disease and uncover new targets to treat common diseases by facilitating advances in genetics and genome technologies, and next generation sequencing. Genetic medicine is a rapidly evolving area of medical research that enables us to identify the genes that cause disease, and better understand how gene dysfunction increases a patient’s disease susceptibility. By harnessing advances in genetics, genome biology, genome technologies and genome informatics, we hope to better predict patient risk before a disease develops and create novel preventative strategies and treatment methods.

Next generation sequencing (NGS) enables us to determine the complete DNA sequence of a person’s genome. By analysing an individual’s genome down to the molecular level, we are able to predict susceptibility and create individually targeted treatment for a range of hereditary diseases.

NGS also allows us to divide patient populations into discrete groups in order to target treatments more effectively. In cases of chronic myeloid leukaemia, for example, many patients do not respond to the first choice drug. Through molecular testing, we can identify these patients earlier and move them to an alternative treatment quickly to increase their chance of recovery.

However, NGS remains prohibitively expensive. By creating a one-stop-shop for NGS analysis, we are pushing down costs and making full genome sequencing more accessible to biomedical researchers so that patients can benefit from new advances in genomic medicine. The “$1,000 genome” is a possibility within the next few years.

Another major hurdle is that the analysis of whole genome sequences is complex, and requires sophisticated computational equipment. We aim to provide the know-how and infrastructure for biomedical researchers to take full advantage of modern genomic technologies.

“By identifying the genetic defects that cause disease, we can develop new treatments that have greater potential to cure the disease because they directly target the underlying mechanisms.”
– Professor Jorge Ferrer, Genetics & Genomics Theme Lead