Our research

We undertake research across a broad spectrum, from descriptions of the natural history of disease, to gene discovery, through to clinical trials and implementation of best practice in the clinic. Our research aims to have a positive impact on the lives of people affected by rare diseases.

Director of the Centre of Rare Disease Studies - Birmingham 

Internal Principal Investigators

Centre for Rare Diseases Studies – theme leads

  • Dr Trevor Cole - Consultant in Clinical and Cancer Genetics and Honorary Reader in Medical Genetics, Rare Disease Lead Birmingham Women’s and Children’s NHS Foundation Trust

  • Dr Gideon Hirschfield - Rare Disease Lead, Senior Lecturer, Honorary Consultant Transplant Hepatologist
    Institute of Immunology and Immunotherapy

  • Dr Larissa Kerecuk - Rare Disease Lead, Consultant Paediatric Nephrologist, Transition and Research Lead for the Renal Department Birmingham Women’s and Children’s NHS Foundation Trust

  • Dr Graham Lipkin - Consultant Kidney Specialist, Rare Disease Lead, and Honorary Senior Lecturer Centre for Rare Diseases, University Hospitals Birmingham NHS Foundation Trust and the University of Birmingham

  • Dr Martin Higgs - Birmingham Fellow for Genomics and Rare Diseases Institute of Cancer and Genomic Sciences