I am Senior Clinical Lecturer at The University of Manchester and Honorary Consultant at The Manchester Centre for Genomic Medicine.

Background.

PhD

I completed my Wellcome Trust Clinical Fellowship in June 2012, in the laboratory of Professor Yanick Crow. My research focused on the rare Mendelian disorder Spondyloenchondrodysplasia (SPENCD). This immuno-osseous dysplasia is a Mendelian form of lupus. Following identification of the causative gene, ACP5, I conducted functional work to determine the role of the encoded protein Tartrate Resistant Acid Phosphatase (TRAP). I spent 5 months of my fellowship at The University of Washington, in the laboratory of Professor Elkon focusing on the autoimmune aspect of SPENCD. The Manchester Biomedical Research Council funded this placement. During my fellowship I was awarded University of Manchester Postgraduate Student of the Year and the Royal Society of Medicine, Alan Emery Genetics prize. This research continued for a further 2 years through a collaborative grant between The University of Manchester and The University of Washington. The two year grant was funded by the Alliance for Lupus research. 

NIHR Clinical Lecturer

I subsequently undertook an NIHR Clinical Lecturer position at the University of Manchester with a Clinical Contract at The Manchester Centre for Genomic Medicine. During this time, I continued my research into Mendelian forms of lupus and autoimmune disease. I also studied mendelian forms of autoinflammatory disease and immunodeficiency. I was funded by the NIHR, Academy of Medical Sciences, Manchester BRC and a L'Oreal Women in Science Fellowship.

NIHR Transitional Research Fellow (TRF)

From November 2016-2018, I completed a two year NIHR TRF Fellowship (whist a Senior Lecturer at The University of Manchester and Honorary Consultant at The Manchester Centre for Genomic Medicine). I undertook training in Clinical Pharmacology and Clinical Trials and continued my research into autoinflammatory genetic disorders, especially those driven by type I interferons. 

Senior Clinical Lecturer at The University of Manchester

From Nov 2018 I have held a split clinical and academic post. My research focus continues to be clinical, translational and research studies relating to autoinflammatory and autoimmune genetic disorders, particularly those driven by type I interferons. I also work on disorders associated with primary immunodeficiency. My clinical work as an Honorary Consultant at The Manchester Centre for Genomic Medicine, Manchester involves both immunogenetics and developmental genetics. I am funded by a Medical Research Foundation, Emerging Leaders in Lupus prize and the Manchester BRC.

I qualified in Medicine in 2003, from The University of Liverpool. I obtained my MRCPCH in 2006 and then started my Clinical Genetics training in Leeds. In 2008, I obtained a Wellcome Trust Clinical Training Fellowship and I obtained my PhD in 2012, at Manchester University. I obtained my CCT in Genetic Medicine in August 2016 and at this time was also awarded a two year NIHR Transitional Fellowship, Senior Clinical Lectureship at The University of Manchester and Honorary Consultant in Genomic Medicine at St Mary's Hospital, Manchester. After my fellowship, on receipt of the Emerging Leaders in Lupus Prize (second prize) from the Medical Research Foundation I continued my work as a Senior Clinical Lecturer and Honorary Consultant in Genomic Medicine.

My research focus is the identification and study of single gene forms of autoimmune and autoinflammatory conditions, such as systemic lupus erythematosus, and an interrogation of the pathological insights such rare but highly penetrant causes of lupus provide. A common theme of this work is the role of type I interferons in autoimmunity. My PhD focused on Spondyloenchondrodysplasia (SPENCD), an inherited immuno-osseous dysplasia associated with short stature, variable neurological involvement and a variety of autoimmune phenomena, including lupus and thrombocytopenia.  I identified the gene, ACP5, which is mutated in this condition and went on to study the functional and clinical aspects of this condition.

My current interests are in both autoimmune and autoinflammatory disorders, especially those driven by single gene disorders affecting the innate immune system.

Professor Yanick Crow, University of Edinburgh and IMAGINE Institut, Paris.

Professor Keith Elkon, University of Washington, Department of Medicine, Seattle, Washington, USA.

Professor Ian Bruce, University of Manchester

Professor Sophie Hambleton, University of Newcastle

Dr John Reynolds, University of Brimingham

Academy of Medical Sciences Mentorship Advisory Group

NIHR BioResource Steering Committee

Member of the Expert group on the management of autoinflammatory diseases, UK

British Society of Human Genetics

Skeletal Dysplasia Group

Medical Women's Federation

Neurogenetics Group

BSc (Hons) Physiotherapy

MBChB

MRCPCH

PhD

Certificate in Medical Genetics

Postgraduate certificate in Medical Leadership  

Fellow of the Higher Education Academy

Postgraduate certificate in Clinical Trials (Dist)  

Certificate in Human Pharmacology 

Genomic Medicine MSc Project Module Lead: Sept 2015- Sept 2017.

Academic Clinical Fellow Training Lead (Integrated Academic Training Programme): July 2017-present.

BSc, MSc and PhD student projects.

MBCHB, BSc & MSc teaching 

Medical Research Foundation Prize Emerging Leaders Prize 2017, Second place winner

The Henry Kunkel Meeting, Research poster prize (2015)

The L’Oréal UK and Ireland Fellowship For Women in Science (2014)

British Paediatric Dermatology Society, Research Platform presentation prize (2014)

David W Smith Workshop, Montreal, Peter Duncan Fellow Award for the Best Platform presentation (2013)         

The Royal Society of Medicine, Alan Emery Prize for the submission of the best-published research article in medical genetics (2011)              

The University of Manchester, Distinguished Achievement Medal – Post Graduate Student of the Year (2011) 

Engaging with the public regarding genetics, my research and to promote the role of women in science is something I am very passionate about. I provide regular genetics education sessions at a local Manchester primary school and have given interactive teaching to Beaver scout troops. I conducted a live radio interview promoting women in science on BBC Radio, have given an interview to UNESCO about my work and I have written several pieces for the media and scientific journals regarding my research and women in science. 

I take part in patient days for patients with primary immunodeficiencies and have run focus groups for patients and families with type I interferon driven disorders. I actively involve patients and families actively in the planning, conduct and dissemination of my research.

Current PhD students

Charlie Rowlands MRC DTP and Qiagen. 2017-2020. Intronic variation in genomics

Sarah Withers MRC DTP. 2018-2021. Stroke 

Melissa Tordoff ARUK. 2018-2021. Genetics of Juvenille Idiopathic Arthritis