Defining the phenotype of severe growth disorders, discovering new genes that control human growth and enhancing clinical practice

Impact: Health impacts

Narrative

May 2017 update: Previously returned to REF 2014. Unlikely to proceed to REF 2021. Red status.



One in ~1,000 children has significant short stature that needs medical evaluation, one in ~4,000 has growth hormone deficiency and one in ~≥10,000 has a genetic growth disorder. Research at the University of Manchester (UoM) has impacted on clinicians worldwide who manage growth disorders. UoM researchers have: characterised growth disorder phenotypes to ensure the right tests are used for the right child and verified the accuracy of diagnostic biochemical tests; discovered new genes associated with a primordial growth disorder and introduced new molecular diagnostic tests for international use; and generated clinical practice guidelines adopted by the worldwide paediatric endocrine community.

Category of impact

  • Health impacts
Date
2008

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