Smita Patel

As a clinical immunologist, my work is aimed at understanding the cellular and molecular basis of primary immune deficiencies and what this can teach us about the normal immune system. At the John Radcliffe Hospital, we look after approximately 250 patients (adult and paediatric) with primary immune deficiencies- the majority of whom do not have a genetic diagnosis.  Establishing the disease-causing gene or pathway has a huge impact on patient care, opening up the potential for tailored treatment options and bone marrow transplantation in some cases.  It also allows genetic counselling for the patient and other family members.

We have used conventional and new genetic techniques to study families and identify the genetic mutations causing their disease.

My work has also focused on establishing the genetic risk factors associated with the most prevalent immune deficiency- Common variable immunodeficiency disorder (CVID).  In collaboration with Professor Julian Knight at the Wellcome Trust Centre for Human Genetics, we have used whole genome sequencing to identify pathways of interest within this complex cohort.  This is a challenging group of patients to work with as the disease is heterogeneous, and despite years of research, the pathogenesis of this ‘common’ rare disease is poorly understood.

Biography

Dr Patel qualified in medicine at Guy’s and St Thomas’s medical school, London, in 1996.  She completed her general medical training in London and her specialist Clinical Immunology training in Cambridge. She undertook a research fellowship in ‘Susceptibility to Mycobacterial Disease’ with Dr Steven Holland, NIH, Bethesda, and was awarded a PhD by the University of Cambridge in 2007. She moved to Oxford in 2010 as a BRC researcher to establish her own laboratory with a focus on PID.