JavaScript is unavailable or disabled; so you are probably going to miss out on a few things. Everything should still work, but with a little less pzazz!
The William Harvey Research Institute - Barts and The London

Dr Helen L. Storr

Helen L.

Reader and Honorary Consultant in Paediatric Endocrinology

Centre: Endocrinology

Email: h.l.storr@qmul.ac.uk
Telephone: +44(0) 20 7882 6198

Profile

ORCID iD: https://orcid.org/0000-0002-9963-1931 

Dr Helen Storr graduated in Medicine in 1995 at the Royal London Hospital. She trained in paediatrics before sub-specialising in paediatric endocrinology under the supervision of Professor Martin Savage. She completed a PhD in molecular endocrinology at the William Harvey Research Institute, Barts and the London School of Medicine funded by a Wellcome Trust Research Training Fellowship. In 2006, she was awarded a HEFCE Clinical Senior Lectureship and appointed Senior Clinical Lecturer and Honorary Consultant in Paediatric Endocrinology at Barts and the Royal London Hospital. In 2011, she was awarded the European Society for Paediatric Endocrinology (ESPE) Young Investigator Award and in 2014, she was promoted to Reader in Paediatric Endocrinology. Dr Storr is Chair of the BSPED Awards Committee, member (and lead for growth research) of the NIHR / British Society for Paediatric Endocrinology (BSPED) Clinical Studies Group and organiser / Chair of the Barts and the London School of Medicine and Dentistry Senior Academic Women's Network.

Find out more about Endocrinology research at the William Harvey Research Institute. 

Research

Group members

Dr Sumana Chatterjee (Clinical Research Fellow/PhD student), Dr Emily Cottrell (Clinical Research Fellow/PhD student), Dr Alexandra Da Costa (MRC Clinical Research Fellow/PhD student), Dr Afiya Andrews (Clinical Research Fellow/PhD student).

Paediatric Endocrinology Research

Her clinical paediatric endocrine practice is broad with key clinical interests including paediatric Cushing’s syndrome, disorders of growth and puberty and adrenal disorders. She leads a programme of clinical and laboratory research and directs an international genetic diagnostic service for patients with severe short stature. Her research focuses on the molecular basis of adrenal disorders and the genetic mechanisms of growth. 

Her current work aims to elucidate the molecular pathogenesis of the Triple A syndrome (AAAS) using induced pluripotent stem cell-derived neurons and adrenocortical cells. Her group has also recently developed a unique next-generation sequencing gene panel for rapid and accurate genetic testing of patients with severe short stature. This work aims to increase the understanding of the molecular basis of growth and enhance the prognosis and treatment of severe short stature.

Visit: Genetic Research Analysing Short Patients (GRASP)

She has also developed a number of clinical research fellowships for paediatric endocrinology trainees at the William Harvey Research Institute, Barts and the London School of Medicine.

Memberships

  • British Society of Paediatric Endocrinology and Diabetes (BSPED) Clinical Studies Group (CSG) (member / lead for growth research)
  • Fellow of the Higher Education Academy (FHEA)
  • British Society of Paediatric Endocrinology and Diabetes (BSPED)
  • European Society of Paediatric Endocrinology (ESPE)
  • The Society for Endocrinology (SfE)
  • Fellow of The Royal College of Paediatrics and Child health (RCPCH)
  • British Medical Association (BMA)

Awards

  • 2019    European Journal of Endocrinology (EJE) Reader’s choice award – most significant contribution to the field in 2017-18
  • 2018    British Endocrine Society (SfE BES) 2018 best poster prize
  • 2018    Fellow of the Royal College of Paediatric and Child Health (FRCPCH)
  • 2015    Clinical Excellence Awards
  • 2012    Clinical Excellence Awards
  • 2011    British Society of Paediatric Endocrinology (BSPED) Merck-Serono Prize
  • 2011    European Society for Paediatric Endocrinology (ESPE) Young Investigator Award
  • 2007    HEFCE Clinical Senior Lecturer Award

Key Publications

For a full list of publications click here

  • Tufton N, Shapiro L, Sahdev A, Kumar AV, Martin L, Drake WM, Akker SA, Storr HL. An analysis of surveillance screening for SDHB-related disease in childhood and adolescence. Endocr Connect. 2019 Mar 1;8(3):162-172. doi: 10.1530/EC-18-0522.
  • Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO, Hwa V. Non-classical growth hormone (GH) insensitivity: characterization of mild abnormalities of GH action. Endo Rev 2019 Apr 1;40(2):476-505. doi: 10.1210/er.2018-00146.
  • Prete FP, Abdel-Aziz T, Morkane C, Brain C, Kurzawinski TR; MEN2 in Children UK Collaborative Group. Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. Br J Surg. 2018 Sep;105(10):1319-1327. doi: 10.1002/bjs.10856.
  • Marques P, Barry S, Ronaldson A, Ogilvie A, Storr HL, Goadsby PJ, Powell M, Dang MN, Chahal HS, Evanson J, Kumar AV, Grieve J, Korbonits M. Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIPMutation-Positive Family. Int J Endocrinol. 2018 Apr 4;2018:8581626. doi: 10.1155/2018/8581626.
  • Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA, Storr HL.. Phenotypic spectrum and responses to recombinant human igf1 (rhigf1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. Eur J Endocrinol. 2018 May;178(5):481-489. doi: 10.1530/EJE-18-0042.
    * European Journal of Endocrinology (EJE) Reader’s choice award – most significant contribution to the field in 2017-18
  • Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL. Whole exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. Eur J Endocrinol 2017 Dec;177(6):485-501.
  • Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR, Guasti L. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Cell R
  • 2018 Jan 30;22(5):1236-1249.
  • Katugampola H, King PJ, Chatterjee S, Meso M, Elahi S, Guasti L, Duncan A, Achermann JC, Ghatore L, Taylor N, Allen RE, Marlene S, Aquilina J, Abbara A, Jaysena CN, Dhillo WS, Dunkel L, Sankilampi U Storr HL. Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3349-3359.
  • Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. J Clin Invest. 2017 Mar 1;127(3):942-953.
  • Yordanova G, Martin L, Afshar F, Sabin I, Alusi G, Plowman NP, Riddoch F, Evanson J, Matson M, Grossman AB, Akker SA, Monson JP, Drake WM, Savage MO, Storr HL. Long-term outcomes of children treated for Cushing's disease: a single center experience. Pituitary. 2016 Dec;19(6):612-624.
  • Tufton N, Shapiro L, Srirangalingam U, Richards P, Sahdev A, Kumar AV, McAndrew L, Martin L, Berney D, Monson J, Chew SL, Waterhouse M, Druce M, Korbonits M, Metcalfe K, Drake WM, Storr HL, Akker SA. Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers. Clin Endocrinol (Oxf). 2017 Feb;86(2):286-29
  • P Le Quesne Stabej, H Williams, C James, M Tekman, HC Stanescu, R Kleta, L Ocaka, F Lescai, HL Storr, GOSgene, M Bitner-Glindzicz, C Bacchelli, GS Conway. STAG3 truncating mutation as the cause of primary ovarian insufficiency. European Journal of Human Genetics. Eur J Hum Genet. 2016 Jan;24(1):135-8HL Storr, MO Savage. Management of Endocrine Disease: Paediatric Cushing’s disease. Eur J Endocrinol. 2015 Jul;173(1):R35-R45. Review.
  • HL Storr, L Dunkel, J Kowalczyk, MO Savage, LA Metherell. Genetic characterisation of a selected cohort of children with short stature and features of growth hormone insensitivity: diagnostic value of serum IGF-1 and height at presentation. Eur J Endocrinol. 2015; Nov 1;27(11-12):1029-31.
  • HL Storr, R Prasad, IK Temple, LA Metherell, MO Savage, JM Walker. Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency. J Endocrinol Invest. 2015 Apr;38(4):407-12.
  • R Prasad, LF Chan, CR Hughes, JP Kaski, JC Kowalczyk, MO Savage, CJ Peters, N Nathwani, AJL Clark, HL Storr*, LA Metherell*. *Equal contribution. Thioredoxin reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab. 2014 Aug;99(8):E1556-63.
  • F Guaraldi, HL Storr, L Ghizzoni, E Ghigo, MO Savage. Paediatric pituitary adenomas: a decade of change. Res. Paediatr. 2014; 81(3):145-55.
  • R Prasad, LA Metherell, AJ Clark, HL Storr. Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology. 2013; 154(9):3209-18.
  • 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.
  • Storr HL, Afshar F, Matson M, Sabin I, Davies KM, Evanson J, Plowman PN, Besser GM, Monson JP, Grossman AB, Savage MO. Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease. Eur J Endocrinol. 2005 Jun;152(6):825-833.
  • Storr HL, Clark AJ, Priestley JV, Michael GJ. Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. Neuroscience. 2005;131(1):113-123.
  • Storr HL, Mitchell H, Swords FM, Main KM, Hindmarsh PC, Betts PR, Shaw NJ, Johnston DI, Clark AJ, Reznek RH, Grossman AB, Savage MO. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia. Clin Endocrinol. 2004 Nov;61(5):553-559.
  • Storr HL, Isidori AM, Monson JP, Besser GM, Grossman AB, Savage MO. Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis. J Clin Endocrinol Metab. 2004 Aug;89(8):3818-3820.
  • Storr HL, Plowman PN, Carroll PV, François I, Krassas GE, Afshar F, Besser GM, Grossman AB, Savage MO. Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment. J Clin Endocrinol Metab. 2003 Jan;88(1):34-37.
  • Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR, Guasti L. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Cell Rep. 2018 Jan 30;22(5):1236-1249. doi: 10.1016/j.celrep.2018.01.003.

Collaborators

Internal: 


External: 

  • Leiden Growth Genetics Group
  • Dr Vivian Hwa (Cincinnatti Center for Growth disorders)
  • Professor Andrew Dauber (Children's National Medical Center, Washington)
  • Professor Gudrun Moore (Institute of Child Health)
  • Professor Peter Clayton (Manchester)
  • Dr John Achermann (ICH London)
  • Prof Angela Huebner and group (Technical University of Dresden, Germany)
  • Prof Bill Skarnes (The Jackson Laboratory for Genomic Medicine / The Wellcome Trust Sanger Institute)

News