Contact Details:

h.l.storr@qmul.ac.uk

Dr Helen Storr graduated in Medicine in 1995 at the Royal London Hospital and after completion of core paediatric training; higher specialist paediatric endocrinology training was undertaken at Barts and the Royal London Hospital. She obtained a PhD in molecular endocrinology in Professor Adrian Clark’s laboratory in the William Harvey Research Institute. Her PhD research has provided preliminary data for the primary disease mechanism for the pathogenesis of the Triple A Syndrome. She was awarded a HEFCE Clinical Senior Lecturer award and was appointed as a Clinical Senior Lecturer and Honorary Consultant in Paediatric Endocrinology at Barts and the Royal London Hospital in July 2007. Her ongoing research interest is the molecular basis of genetic childhood endocrine disease.

Current research interests

 

• Triple A syndrome: Current research aims to further elucidate the mechanism of the Triple A syndrome disease pathogenesis. This work is undertaken in collaboration with Professor Adrian Clark in the Centre for Endocrinology and Angela Huebner’s group in Dresden, Germany. My related area of interest is the genetic basis of familial glucocorticoid deficiency (FGD).
  
  
• Childhood Cushing’s syndrome: Our department has made significant contributions to the understanding of childhood Cushing’s syndrome particularly paediatric Cushing’s disease and is an ongoing clinical research interest of our group. Our strong links and research collaborations with the adult endocrinology department at Barts and the Royal London Hospital greatly facilitate the investigation and management of these complex patients.

• Genetics of growth and growth hormone insensitivity syndrome (GHIS): The paediatric endocrinology department has become a recognised referral centre for difficult cases of short stature particularly those thought to be secondary to GHIS. The molecular characterisation of these cases is performed in collaboration with Professor Adrian Clark’s laboratory. We provide a clinical advisory role for the investigation and management of patients referred with possible GHIS and future research will aim to increase the understanding of the genetic basis of childhood growth.

• Dr Storr runs a transition clinic, a multidisciplinary growth clinic for children with short stature born small for gestational age and a clinic dedicated to the screening and management of children at risk of familial endocrine neoplasia syndromes.

 

Key publications

 

• R. Prasad, L.B. Johnston, M.O. Savage, L. Martin, L.A. Perry, H.L. Storr. Paediatric endocrine screening for von Hippel-Lindau (VHL) disease: benefits and the challenge of compliance. J. Endocrinol. Invest. 2010 (in press).
  
  
• Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen ÅK, Clark AJL, Main KM. Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene mutation. Horm. Res. 2010;73(2):115-119
  
  
• Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB, Storr HL. Diagnosis and Treatment of Cushing's Disease in Children. Endocr Dev. 2010;17:134-145.
  
  
• Dias R, Kumaran A, Chan L, Martin L, Afshar F, Matson M, Plowman PN, Monson J, Besser M, Grossman A, Savage M, Storr HL. Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease. Eur J Endocrinol. Mar;162(3):603-609.
  
  
• Savage MO and Storr HL. Growth and body composition at diagnosis and postcure in children with Cushing’s syndrome. Pediatr. Health. 2009 3(1): 13-18.
  
  
• Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJ. Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol. 2009 Dec;23(12):2086-94.
  
  
• Savage MO, Chan LF, Grossman AB, Storr HL. Work-up and management of paediatric Cushing's syndrome. Curr Opin Endocrinol Diabetes Obes. 2008 Aug;15(4):346-51.
  
  
• Savage MO, Chan LF, Afshar F, Plowman PN, Grossman AB, Storr HL. Advances in the Management of Paediatric Cushing's Disease. Horm Res. 2008 Mar 17;69(6):327-333.
  
  
• Storr HL, Chan LF, Grossman AB, Savage MO. Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances. Trends Endocrinol Metab. 2007 May-Jun;18(4):167-174.