Dr Emily Cottrell, Clinical Research Fellow in Paediatric Endocrinology email@example.com
Dr Sumana Chatterjee, Clinical Research Fellow in Paediatric Endocrinology firstname.lastname@example.org
Dr Helen Storr (PI), Reader and Honorary Consultant in Paediatric Endocrinology email@example.com
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.
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.