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GRASP - Genetic Research Analysing Short Patients



William Harvey Research Institute based at Charterhouse Square, London

Severe short stature can cause physical and psychological disadvantages.  Poor growth can be the result of a wide range of diseases but many children (up to 80%) who are referred with short stature have no identifiable cause. It is estimated that about 80% variation in human height is determined by genetic factors and family studies show that gene defects play an important role in short stature. Our research work aims to investigate the genetic causes of short stature.

The Centre for Endocrinology at the William Harvey Research Institute, Barts and the London School of Medicine, QMUL has an established reputation in the management of short stature in children and a long track record of research into its causes. The short stature genetic sequencing service and research group is led by Dr Helen Storr. Over the last 10 years, our group at the WHRI have developed a Short Stature Genetic Sequencing Service. A combination of candidate gene and whole exome sequencing identified a genetic diagnosis in ~50% of patients referred to us for testing. An accurate diagnosis is critical in the management of short stature disorders and we currently receive referrals from many UK centres and also from clinicians around the world.

We have recently developed a customised short stature gene panel which will streamline our genetic testing. The gene panel allows us to analyse a range of short stature genes in one test and process more patient samples at one time. This should result in more rapid and accurate testing and we hope that we will be able to increase the number of patients with a genetic diagnosis. As part of our current research, we are also looking at copy number variants in patients with short stature. 

We are happy to receive new referrals. Gene panel and CNV testing are currently offered free of charge. If you are interested in referring a patient to us please see our referral criteria.



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