Reader & Honorary Consultant in Paediatric Endocrinology
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. In 2011, she was awarded the European Society for Paediatric Endocrinology (ESPE) Young Investigator Award. In 2014, she was appointed a Reader in Paediatric Endocrinology.
Summary of Research
Paediatric Endocrinology Research
Adrenal: Ongoing work aims to elucidate the mechanism of the Triple A syndrome (AAAS) pathogenesis by establishing an in vitro disease model. Current focus is the role of oxidative stress in AAAS disease pathogenesis and its relationship with other forms of familial glucocorticoid deficiency (FGD) due to recently identified mutations in antioxidant genes (see Metherell). Other studies focus on the role of kisspeptin in the development, differentiation and function of the human fetal adrenal gland and its possible roles in the regulation of the foeto-placental unit.
Growth: I lead an international genetic diagnostic service and clinical advisory role for patients with suspected growth hormone insensitivity syndrome (GHIS). Current clinical studies and laboratory research aim to increase the understanding of disorders of the GH-IGF-1 axis and improve the future treatment of these conditions.
Childhood Cushing’s syndrome: Is an ongoing clinical research interest particularly Cushing’s disease. We have published widely on many aspects of the investigation and management of this rare disorder. Our strong links and research collaborations with the adult endocrinology department greatly facilitate the investigation and management of these complex patients.
Figure 1. Treatment with the anti-oxidant N-acetylcysteine (NAC) improves cell viability of AAAS-knock-down cells. A. Treatment with 1mM NAC for 48 hours significantly increases absorbance in both AAAS-knock-down (AAAS-KD) and control H295R cells (n=3). B. There is a significantly greater % increase in absorbance following treatment in the knockdown cells in comparison with controls (n=3). p< 0.05*, p< 0.01**
Figure 2. Kiss 1R expression in the adrenal gland. Immunofluorescence co-localisation studies of the adrenal. Localisation of CD56 (green) in the outer definitive zone (B, F) using anti-CD56. Localisation of SULT2A1 (red) in the inner foetal zone (C) using anti-SULT2A1. Localisation of Kiss1R (red) throughout the cortex (G,H) using anti-Kiss1R antibody. Scale bar 100μm.
Members of the Group
Clinical Fellows: Dr Rathi Prasad; Dr Sasha Howard; Dr Harshini; Katugampola; Dr Muriel Meso
PhD student: Dr Julia Kowalczyk