Investigators:

Dr Emily Cottrell, Clinical Research Fellow in Paediatric Endocrinology e.cottrell@qmul.ac.uk

Dr Afiya Andrews, Clinical Research Fellow in Paediatric Endocrinology a.andrews@qmul.ac.uk

Dr Avi Maharj, Clinical Post-doctoral researcher in Paediatric Endocrinology a.v.maharaj@qmul.ac.uk 

Dr Helen Storr (PI), Reader and Honorary Consultant in Paediatric Endocrinology h.l.storr@qmul.ac.uk

Centre:
The Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University London, First Floor, John Vane Science Centre, Charterhouse Square, London, EC1M 6BQ.

Summary:

The Centre for Endocrinology (CFE) at WHRI has an international reputation in the diagnosis/management of children with growth disorders. In 2008, we established a genetic sequencing service for patients with short stature and features of growth hormone insensitivity (GHI), a rare and poorly understood condition. Of 129 patients referred to our centre to date, our comprehensive genetic testing service has pinpointed a genetic diagnosis in a significant (~50%) proportion of patients. National and international demand for this service is growing.

We propose to develop a custom-made gene-panel, which will allow rapid analysis of genes causing short stature in one test, with the potential to transform the diagnosis and management of patients across the UK and Europe.

The novel panel incorporates ~60 genes associated with short stature including GH-IGF-1 axis, 3M and Noonan syndrome genes. We have the expertise to find new genes in the unsolved cases and will assess how each genetic defect disrupts normal molecular pathways to identify new targets for treatment.

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Updated Oct 2021

Further Information: www.qmul.ac.uk/grasp/ 

In December 2016, we secured funding from Barts Charity for this proposal and our team, led by Dr Helen Storr, have developed a novel customised short stature gene panel. We are also analysing copy number variants in undiagnosed patients with short stature referred to us. New referrals are eligible for both tests free of charge – see more details about our research, referral criteria and relevant documents on our website.

Investigators:

Chief Investigator: Dr Ajay Thankamony, gna25@medschl.cam.ac.uk

Medic: Dr Emile Hendricks, aejh6@medschl.cam.ac.uk

Summary:

The North European Small for Gestational Age Study (NESGAS) found that children born Small for Gestational Age (SGA) without catch up growth, who were more sensitive to insulin, grew better when they received Growth Hormone treatment.

Metformin is used to treat type 2 diabetics as it makes them more sensitive to insulin, a hormone which regulates blood sugar. We believe giving Metformin in addition to Growth Hormone to SGA children may make them more insulin sensitive thus they may respond better to their Growth Hormone treatment.

Growth Hormone works by producing a growth promoting hormone called Insulin like Growth Factor-1(IGF-1).  We will measure IGF-1 levels in the children’s blood to determine the response to their Growth Hormone treatment and this will provide evidence of the long-term effects of Metformin on growth in this population.

Further Information:

https://paediatrics.medschl.cam.ac.uk/research/clinical-trials/sga-metformin-study/

Updated Oct 2021