Email: Sophie.hambleton@ncl.ac.uk

Research profile and key clinical specialties

I trained in clinical paediatrics and in basic immunology, with a focus on inborn errors of the immune system.

Since 2008, I have been a consultant on the immunology and infectious diseases team at the Great North Children’s Hospital (GNCH). I lead a research team at Newcastle University working to discover the genetic causes of immunodeficiency in our patients. I am passionately committed to making research work for patients at GNCH.

I am active within the primary immunodeficiency community both nationally and internationally. I am a member of the UKPIN Genomics Steering Group and the MRC Infection and Immunity Board. My Research – Primary immunodeficiencies (PIDs) represent a rich resource for hypothesis-generating research on the human immune system.

My aim is to elucidate disease mechanism in novel inherited disorders of cellular immunity. My group studies well-characterised patients presenting in childhood with otherwise unexplained susceptibility to intracellular pathogens and/or immune dysregulation.

A variety of methods are used to identify candidate disease-causing gene variants, including whole exome sequencing and homozygosity mapping. Selected variants are taken forward for biochemical and functional validation by tailored analyses of biobanked material.

In recent years we have identified novel defects of T cells, antigen-presenting cells and innate antiviral immunity that have each contributed important mechanistic insights into human immunobiology.

Two key publications

• Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, et al., *Hambleton S, *Su HC [*joint senior authorship]. Dual proteolytic pathways govern glycolysis and immune competence. Cell 2014;159(7):1578-90
• Duncan CJ, Mohamad SM, Young DF, Skelton AJ, et al., Hambleton S. Human IFNAR2 deficiency: Lessons for antiviral immunity. Sci Transl Med. 2015 Sep 30;7(307):307ra154.

Possible PhD projects

• An exploration of Pathomechanism in two novel Mendelian disorders of immune regulation.

More information

Welcomes both basic scientist and clinicians into research group at all levels.

Keywords: Paediatrics, immunology, infections, inborn, immune, genetic, immunodeficiency, cellular, intracellular, pathogens, dysregulation, Pathomechanism, Sophie, Hambleton, Newcastle

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