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

Key Individuals
  • Professor Jorge Ferrer
    Professor Jorge Ferrer
    Theme Lead, Genetics & Genomics
  • Dr Claire Shovlin
    Dr Claire Shovlin
    Reader in Clinical and Molecular Medicine
  • Dr Enrico Petretto
    Dr Enrico Petretto
    Senior Lecturer
  • Dr Inga Prokopenko
    Dr Inga Prokopenko
    Senior Lecturer in Human Genomics
  • Dr Michael Johnson
    Dr Michael Johnson
    Reader in Genomic Medicine (Clinical)
  • Dr Panagiotis Pantelidis
    Dr Panagiotis Pantelidis
    Divisional Consultant Scientist
  • Dr Peter Kelleher
    Dr Peter Kelleher
    Reader in Immunology
  • Dr Silvain Ladame
    Dr Silvain Ladame
    Senior Lecturer
  • Professor Amanda Fisher
    Professor Amanda Fisher
    Head of Institute of Clinical Sciences
  • Professor Anastasios Karadimitris
    Professor Anastasios Karadimitris
    Professor of Haematology
  • Professor Boris Lenhard
    Professor Boris Lenhard
    Professor of Computational Biology
  • Professor David Lane
    Professor David Lane
    Professor of Molecular Haematology
  • Professor Kikkeri Naresh
    Professor Kikkeri Naresh
    Consultant Pathologist
  • Professor Martin Wilkins
    Professor Martin Wilkins
    Director, NIHR / Wellcome Trust Imperial CRF
  • Professor Matthias Merkenschlager
    Professor Matthias Merkenschlager
    Professor of Cell Biology
  • Professor Michael Laffan
    Professor Michael Laffan
    Professor of Haemostasis & Thrombosis
  • Professor Philippe Froguel
    Professor Philippe Froguel
    Chair in Genomic Medicine
  • Professor Shiranee Sriskandan
    Professor Shiranee Sriskandan
    Professor of Infectious Diseases
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