GRASP – Genetic Research Analysing Short Patients


Dr Emily Cottrell, Clinical Research Fellow in Paediatric Endocrinology

Dr Sumana Chatterjee, Clinical Research Fellow in Paediatric Endocrinology

Dr Helen Storr (PI), Reader and Honorary Consultant in Paediatric Endocrinology

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.


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.

Start Date: 01/03/2017
End Date: --/--/----

Further Information: 

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.


Effect of insulin sensitization on insulin like growth factor-1 responses to growth hormone treatment in children born small for gestational age


Professor David Dunger,


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.

Start Date: 01/11/2016
End Date: 01/11/2019

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Is growth hormone treatment a long term benefit for patients with Silver

Russell syndrome?

NIHR Research for Patient Benefit


Dr Justin Davies, 02381 20 6985

Silver Russell syndrome is a rare genetic disorder of growth which starts in the womb and which significantly restricts final height (between 140-150 cm). It is usually due to a genetic fault on chromosome 11. At present children are offered Growth Hormone (GH) to improve adult height by about 4cm even though patients are not necessarily GH deficient and families don’t know if there are any potential long term risks with treatment. There are few studies on the outcome of the disorder in adults or whether GH makes a difference in this particular syndrome compared to other causes of short stature and low birth weight. Not much is known about adult life with SRS or whether patients are particularly susceptible to early onset metabolic disease like diabetes or heart disease. The genes causing SRS are predicted to alter metabolism and GH may be more or less beneficial in this subgroup. This study, therefore, is to investigate patients with SRS from around the UK measuring height, quality of life, factors which indicate metabolic disease like lipid levels, weight, BP and blood sugar levels and compare SRS patients with the same genetic cause who have been given GH with those who have not been given the treatment. At the same time we will interview a subgroup of adults with SRS to identify important themes in people's life experiences.
Start Date: 01/09/2014
End Date: 01/09/2018

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