The laboratory has a long interest in the study of childhood growth disorders making key contributions to the understanding of GH deficiency states, GH insensitivity disorders, the physiological links between GH secretion and growth, and molecular defects in primordial growth disorders. The team have been involved in pioneering studies to evaluate the role of pharmacogenomics in understanding response to GH therapy.
Current work includes:
- The EPIGROW Study – a pharmacoepidemiological study to evaluate the contribution of genetic variants in children with short stature of undefined aetiology. [In collaboration with Ipsen BioPharma].
- 3-M syndrome – Using this monogenic growth disorder associated with mutations in 3 genes to unravel mechanisms leading to disordered pre- and post-natal growth, and how these mechanisms may link to the GH-IGF-Insulin axis.
- Genomics related to the phases of normal human growth and pharmacogenomcis related to responsiveness to GH therapy, as part of the PREDICT programme [the latter in collaboration with MerckSerono].
- Developing the Zebrafish as a humanised model of growth to test gene-environment interactions related to GH responsiveness.