GRASP – Genetic Research Analysing Short Patients |
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Investigators: Professor Helen Storr (PI), Professor and Honorary Consultant in Paediatric Endocrinology [email protected] Dr Avi Maharj, Clinical Post-doctoral researcher in Paediatric Endocrinology [email protected] Dr Miho Ishida, Post-doctoral Researcher Bioinformatician [email protected] Dr Afiya Andrews, Clinical Research Fellow in Paediatric Endocrinology [email protected] Dr Emily Cottrell, Clinical Research Fellow in Paediatric Endocrinology [email protected] Centre: |
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Summary: The Centre for Endocrinology at the William Harvey Research Institute has an international reputation in the diagnosis and management of children with growth disorders. In 2008, we established a genetic sequencing service for patients with undiagnosed short stature many with features of growth hormone insensitivity (GHI), a rare and poorly understood condition. In 2018, we developed a short stature targeted whole genome gene-panel, to allow rapid analysis of genes causing short stature in one test, with the potential to transform the diagnosis and management of patients. The novel panel incorporates ~65 genes associated with short stature including GH-IGF-1 axis, 3M, Silver-Russell and Noonan syndrome genes. We seek novel mechanisms and growth genes in the unsolved cases and assess how each genetic defect disrupts normal molecular pathways to identify new targets for treatment. Of almost 250 patients referred to our centre to date, our comprehensive genetic testing service has pinpointed a definitive or putative genetic diagnosis in a significant (~70%) proportion of patients. |
| Start Date: 01/03/2017 |
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End Date: Still Active Updated Feb 2023 |
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Further Information: More information about the research and how to refer patients can be found on our website. The team is led by Professor Helen Storr (https://www.qmul.ac.uk/whri/people/academic-staff/items/storrhelen.html) This work has been funded by grants from Barts Charity and ESPE and is currently by NIHR. Genetic testing is free of charge – see more details about the genetic testing, research and referral criteria (https://www.qmul.ac.uk/grasp/genetic-testing/) and relevant information and consent documents on our website (https://www.qmul.ac.uk/grasp/forms/). Contact our team https://www.qmul.ac.uk/grasp/contact-us/
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Effect of insulin sensitization on insulin like growth factor-1 responses to growth hormone treatment in children born small for gestational age |
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Investigators: Chief Investigator: Dr Ajay Thankamony, [email protected] Medic: Dr Emile Hendricks, [email protected] |
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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. |
| Start Date: 01/08/2018 |
| End Date: Still active |
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Further Information: https://paediatrics.medschl.cam.ac.uk/research/clinical-trials/sga-metformin-study/ Updated Oct 2021 |