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Professor Helen Storr

Helen

Professor and Honorary Consultant in Paediatric Endocrinology

Centre: Endocrinology

Email: h.l.storr@qmul.ac.uk
Telephone: +44(0) 20 7882 6198
Twitter: @hlstorr1

Profile

ORCID iD: 0000-0002-9963-1931 

Professor Helen Storr graduated in Medicine in 1995 at the Royal London Hospital. She trained in paediatrics before sub-specialising in paediatric endocrinology. She completed a PhD in molecular endocrinology at the William Harvey Research Institute, Barts and the London School of Medicine (Centre for Endocrinology) funded by a Wellcome Trust Research Training Fellowship. In 2006, she was awarded a HEFCE Clinical Senior Lectureship and was appointed Senior Clinical Lecturer at Queen Mary University London and Honorary Consultant in Paediatric Endocrinology at Barts Health Trust. Professor Storr was promoted to Academic Reader in 2014 and Professor in 2020. She was awarded the 2011 European Society for Paediatric Endocrinology (ESPE) Young Investigator Award and a 5-year NIHR Advanced Fellowship in 2019. Professor Storr is on the Editorial Board for the Journal of Clinical Endocrinology & Metabolism, member (and lead for growth research) of the NIHR / BSPED Clinical Studies Group (CSG), leads the national BSPED Growth disorders Special Interest Group (GD-SIG) and is a medical advisor for the Child Growth Foundation (CGF).

Websites

 

Research

Group members

  • Dr Avinaash Maharaj, Post-Doctoral Researcher
  • Dr Miho Ishida, Post-Doctoral Bioinformatician Researcher
  • Dr Liliane El Eid, Post-Doctoral Researcher
  • Dr Afiya Andrews, NIHR Academic Clinical Lecturer
  • Dr Alexandra Da Costa, MRC Clinical Research Fellow | PhD student

Paediatric Endocrinology Research

Professor Storr’s clinical paediatric endocrine practice is broad with key clinical interests including disorders of growth and puberty and paediatric Cushing’s syndrome. She leads an active clinical and laboratory research group and directs an international genetic testing research programme for patients with undiagnosed short stature. Her current research funded by an NIHR Advanced Fellowship, focuses on all aspects of the recognition and diagnosis of growth disorders in children. She is medical advisor for the Child Growth Foundation (CGF).

Her group have developed unique next generation sequencing pipelines for rapid and accurate genetic testing of patients with short stature. This work aims to increase the understanding of the molecular basis of growth and enhance the diagnosis, prognosis and treatment of severe short stature. For more information visit: http://www.qmul.ac.uk/grasp/

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

Memberships

  • Fellow of The Royal College of Paediatrics and Child Health (RCPCH)
  • Fellow of the Higher Education Academy (FHEA)
  • British Society of Paediatric Endocrinology and Diabetes (BSPED)
  • Chair and founder member of the national BSPED Growth disorders Special Interest Group (GD-SIG)
  • National Institute for Health and Care Research (NIHR) / British Society of Paediatric Endocrinology and Diabetes (BSPED) Clinical Studies Group (CSG) (member and lead for growth research)
  • European Society of Paediatric Endocrinology (ESPE)
  • The Society for Endocrinology (SfE)
  • British Medical Association (BMA)

Publications

Full list of publications 

Recent publications:

  1. Maharaj AV, Andrews A, Rybak A, Elfeky R, Ishida M, Joensuu A, Kantojärvi K, Jia R, Perry JRB, O’Toole E, Hwa V*, Storr HL*. QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction. Nature Communications. 2024 Sep 28:15(1):8420. Doi:10.1038/s41467-024-52587-w.
  2. Rahman T, Freer J, Cordani I, Papasavva M, Dunkel L, Walton R, Storr HL, Prendergast AJ, Orr J. Parental and healthcare provider attitudes towards the Healthy Child Programme in England: a qualitative analysis. BMC Public Health. 2024 Aug 28;24(1):2342. doi: 10.1186/s12889-024-19515-5.PMID: 39198779 Free PMC article.
  3. Kurup U, Lim DBN, Palau H, Maharaj AV, Ishida M, Davies JH, Storr HL. Approach to the patient with suspected Silver-Russell syndrome. J Clin Endocrinol Metab. 2024 Jun 18:dgae423. doi: 10.1210/clinem/dgae423. Online ahead of print.PMID: 38888172
  4. Maharaj AV, Cottrell E, Thanasupawat T, Joustra SD, Triggs-Raine B, Fujimoto M, Kant S, van der Kaay D, Clement-de Boers A, Brooks AS, Rinne T, Amador Aguirre G, Inmaculada Castilla de Cortázar Larrea M, Massoud A, Van Duyvenvoorde HA, De Bruin C, Hwa V, Klonisch T, Hombach-Klonisch S, Storr HL. Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome. 2024. JCI Insight Feb 20;9(6):e169425. doi: 10.1172/jci.insight.169425.PMID: 38516887
  5. Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce M, Evanson J, Flanagan D, Glynn N, Higham C, Jacques T, Sinha S, Simmons I, Thorp N, Swords F, Storr HL, Spoudeas H. Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence. Part 1, general recommendations. 2024. Nature Reviews Endocrinology. May;20(5):278-289. doi: 10.1038/s41574-023-00948-8. Epub 2024 Feb 9.PMID: 38336897
  6. Korbonits M, Blair JC, Boguslawska A, Ayuk J, Davies JH, Druce M, Evanson J, Flanagan D, Glynn N, Higham C, Jacques T, Sinha S, Simmons I, Thorp N, Swords F, Storr HL, Spoudeas H. Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence. Part 2, specific diseases. 2024. Nature Reviews Endocrinology. May;20(5):290-309. doi: 10.1038/s41574-023-00949-7. Epub 2024 Feb 9.PMID: 38336898
  7. Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E, Polak M, Storr HL, Dattani MT. Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective. Orphanet J Rare Dis. 2023 Oct 7;18(1):312. doi: 10.1186/s13023-023-02928-7. PMID: 37805563; PMCID: PMC10559630.
  8. Gerard Ruiz-Babot, Ariane Eceiza, Fernando Abollo-Jiménez, Maria Malyukov, Diana L. Carlone, Kleiton Borges, Alexandra Rodrigues Da Costa, Shamma Qarin, Takuya Matsumoto, Ryuji Morizane, William C Skarnes, Barbara Ludwig, J Paul Chapple, Leonardo Guasti, Helen L. Storr, Stefan R. Bornstein, David T. Breault. Generation of glucocorticoid-producing cells derived from human pluripotent stem cells. 2023 Nov 20;3(11):100627. doi: 10.1016/j.crmeth.2023.100627. Epub 2023 Nov 3. PMID: 37924815; PMCID: PMC10694497.
  9. Thaventhiran T, Orr J, Morris JK, Hsu A, Martin L, Davies K, Harding V, Chapple P, Dunkel L, Storr HL. A novel digital health solution for child growth monitoring at home: ‘GrowthMonitor’ smartphone app to detect abnormal height and body mass indices. 2023. Mayo Clinic Proceedings: Digital Health – in press.
  10. Aung Y, Kokotsis V, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L, Hughes C, McGuigan M, Korbonits M, Paltoglou G, Sakka S, Storr HL, Willemsen RH, Howard SR. Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotropic hypogonadism. Front. Endocrinol. Sec. Reproduction. Volume 14 – 2023. doi10.3389/fendo.2023.1226839
  11. Joseph Freer, Joanna Orr, Robert Walton, Helen L. Storr, Leo Dunkel & Andrew J. Prendergast(2023) Does stunting still matter in high-income countries?, Annals of Human Biology, 50:1, 267-273. PMID: 37358011.
  12. Savage MO, Donaldson MDC, Davies JH, Storr HL. Key stages in the development and establishment of paediatric endocrinology - a template for future progress. Horm Res Paediatr. 2023 Apr 25. doi: 10.1159/000530841. Epub ahead of print. PMID: 37166328.
  13. Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB, Metherell LA, McCormick PJ, Storr HL. Characterisation of dominant-negative GH receptor variants reveals a potential therapeutic target for short stature. Eur J Endocrinol. 2023 Mar 21:lvad039. doi: 10.1093/ejendo/lvad039. Epub ahead of print. PMID: 36943306.
  14. Davies JH, Child J, Freer J, Storr HL. Inequalities in the assessment of childhood short stature. Br J Gen Pract. 2023 Mar 30;73(729):150-151. doi: 10.3399/bjgp23X732309.
  15. Storr HL, Freer J, Child J, Davies JH. Assessment of childhood short stature: a GP guide. Br J Gen Pract. 2023 Mar 30;73(729):184-186. doi: 10.3399/bjgp23X732525. PMID: 36997204; PMCID: PMC10049590.
  16. Olear Ri, Lettieri A, Manzini S, Paganoni, AJJ, Andre V, Grazioli P, Busnelli M, Dominuco P, Vitobello A, Phillippe C, Bizaoui V, Storr HL, Amoruso F, Memi F, Vezzoli V, Massa V, Scheiffele P, Howard SR, Cariboni A. Combined omic analyses reveal autism linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease. 2023. Disease Models and Mechanisms. https://doi.org/10.1101/2022.05.24.22275221
  17. Freer J, Orr J, Morris JK, Walton R, Dunkel L, Storr HL, Prendergast AJ.Short stature and language development in the United Kingdom: a longitudinal analysis of children from the Millennium Cohort Study. BMC Med 20, 468 (2022). https://doi.org/10.1186/s12916-022-02680-y.
  18. White G, Cosier S, Andrews A, Martin L, Willemsen R, Savage MO, Storr HL. Evaluating the Sensitivity and Specificity of the UK and Dutch Growth Referral Criteria in Predicting the Diagnosis of Pathological Short Stature. BMJ Paediatrics Open. 2022;6:doi:10.1136/bmjpo-2021-001385.
  19. Savage MO, Storr HL. Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches. Ann Pediatr Endocrinol Metab. 2021 Dec;26(4):218-226. doi: 10.6065/apem. PMID: 34991299
  20. SaengkaewT, Patel HR, Banerjee, Butler G, Mehul Tulsidas Dattani M, McGuigan M, Storr HL, Willemsen R, Dunkel L,  Howard SR, Genetic Evaluation Supports Differential Diagnosis in Adolescent Patients with Delayed Puberty. Eur J Endocrinol. 2021. Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387.PMID: 34403359.
  21. Orr J, Freer J, Morris JK, Hancock C, Walton R, Dunkel L, Storr HL, Prendergast AJ. Regional differences in short stature in England between 2006-2019: A cross-sectional analysis from the National Child Measurement Programme. PLOS Medicine. 2021. Sep 28;18(9):e1003760. doi: 10.1371/journal.pmed.1003760. eCollection 2021 Sep.PMID: 34582440.
  22. Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Growth hormone receptor (GHR) 6Ω Pseudoexon activation: A novel cause of severe growth hormone insensitivity (GHI). J Clin Endocrinol Metab. 2021. Jul 28:dgab550. doi: 10.1210/clinem/dgab550. Online ahead of print.PMID: 34453441. British Endocrine Society 2019 - best abstract prize.
  23. Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. J Clin Endocrinol Metab. 2021. Jun 16:dgab437. doi: 10.1210/clinem/dgab437. Online ahead of print.PMID: 34136918.
  24. Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa F, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O’Toole S, Goodchild E, Marker M, Senanayake R, Garg S, Akerstrom T, Backman S, Jordan S, Polubothu S, Berney D, Gluck A, Lines K, Thakker RV, Tuthill A, Joyce C, Pablo Kaski J, Karet Frankl F, Metherell LA, Teo A, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Ling Kuan J, Tiang Z, Gomez Sanchez C, Hellman P, Foo F, Mein C, Kinsler V, Bjorklund P, Storr HL,* Zennaro M-C,* Brown MJ*. *Equal contribution. Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing 1 adenomas which present in puberty, pregnancy or menopause. Nature Genetics. 2021. Sep;53(9):1360-1372. doi: 10.1038/s41588-021-00906-y. Epub 2021 Aug 12.PMID: 34385710
  25. Ueland GÅ, Kellmann R, Davidsen MJ, Viste K, Husebye ES, et al Bedtime salivary cortisol as a screening test for Cushing syndrome in children. Journal of the Endocrine Society. 2021. Mar 4;5(5):bvab033. doi: 10.1210/jendso/bvab033. eCollection 2021 May 1.PMID: 33928203.
  26. Ferrigno R, Hasenmajer V, Caiulo S, Minnetti M, Mazzotta P, Storr HL, Isidori AM, Grossman AB, De Martino MC, Savage MO. Paediatric Cushing's Disease: Epidemiology, Pathogenesis, Clinical Management and Outcome. Reviews in Endocrine and Metabolic Disorders. 2021. Jan 30. doi: 10.1007/s11154-021-09626-4. Online ahead of print.PMID: 33515368
  27. Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT, Storr HL. The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. J Endocrinol Invest. 2021 Jun;44(6):1331- 1334. doi: 10.1007/s40618-020-01433-z.2020. PMID: 32996068. British Society of Paediatric Endocrinology and Diabetes 2019 - CME day presentation prize.
  28. Savage MO, Storr HL, Backeljauw PF. The continuum between GH deficiency and GH insensitivity in children. Rev Endocr Metab Disord. 2021. Mar;22(1):91-99. doi: 10.1007/s11154-020-09590-5. Epub 2020 Oct 6. PMID: 33025383.
  29. Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Al Basiri I, Rose S, Mason A, Bint S, Ahn JW, Hwa V, Metherell LA, Moore GE, Storr HL. Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 Insensitivity. Eur J Endocrinol. 2020 Dec;183(6):481-48 581–595. doi: 10.1530/EJE-20-0474.
  30. Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA, Storr HL. GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Endocr Connect. 2020 Feb 1;9(3):211-22. doi: 10.1530/EC-20-0026. PMID: 32061156.
  31. Marques P, Caimari F, Hernández-Ramírez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT, Stals K, Ellard S, Grossman AB, Korbonits M; FIPA Consortium. Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors. J Clin Endocrinol Metab. 2020. Jun 1;105(6):e2247-60. doi: 10.1210/clinem/dgaa040.PMID: 31996917.
  32. Rubinstein G, Osswald A, Hoster E, Losa M, Elenkova A, Zacharieva S, Machado MC, Hanzu FA, Zopp S, Ritzel K, Riester A, Braun LT, Kreitschmann-Andermahr I, Storr HL, Bansal P, Barahona MJ, Cosaro E, Dogansen SC, Johnston PC, Santos de Oliveira R, Raftopoulos C, Scaroni C, Valassi E, van der Werff SJA, Schopohl J, Beuschlein F, Reincke M. Time to diagnosis in Cushing's syndrome: A meta-analysis based on 5367 patients. J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgz136. doi: 10.1210/clinem/dgz136. PMID: 31665382.
  33. 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. Endocrine connections most viewed article 2019.
  34. 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.
  35. 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.
  36. 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 AIP Mutation-Positive Family. Int J Endocrinol. 2018 Apr 4;2018:8581626. doi: 10.1155/2018/8581626.
  37. 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. 2019 Reader’s choice award – most significant contribution to the field in 2017-18.
  38. 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.
  39. 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. doi: 10.1530/EJE-17-0453.
  40. 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.  doi: 10.1210/jc.2017-00763.

Sponsors

Collaborators

Internal

External

  • Professor Vivian Hwa (Cincinnatti Center for Growth disorders)
  • Professor Andrew Dauber (Children's National Medical Center, Washington)
  • Dr Christiaan De Bruin and Hermine (Leiden Growth Genetics Group)
  • Professor Peter Clayton (University of Manchester)
  • Professor Justin Davies (National imprinting disorders group, University of Southampton)
  • Professors Thomas Klonisch and Sabine Hombach-Klonisch (University of Manitoba, Canada)
  • Professor Nobuharu Suzuki (Tokyo Medical and Dental University)
  • Professor Sarah Flanagan(Exeter Medical School) 
  • Professor John Perry (University of Cambridge)

News

  1. British Society for Paediatric Endocrinology (BSPED) best abstract prize 2024. David BN Lim, Louise McCelland, Suzanne Page, Mellissa Connolly, Martina Owens, Chris Bowles, Helena Palau, Miho Ishida, Avinaash V Maharaj, Helen L. Storr*, Justin H Davies*. Diagnostic testing using gene panels for severe childhood growth failure and multiple pituitary hormone deficiency in England.
  2. The Society for Endocrinology National Cases Abstract 2022 Prize: Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Metherell LA, McCormick PJ, Storr HL. Genetic analysis of patients with undiagnosed short stature identified novel dominant negative GH receptor variants which provide important insights into GHR physiology.
  3. The Society for Endocrinology National Cases Abstract 2021 Prize: Cottrell E, Chatterjee S, Hwa V, Storr HL. A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology.
  4. British Society of Paediatric Endocrinology and Diabetes 2022 – annual CME day presentation prize: Chatterjee S, Maharaj A, Storr HL, Giri D. A rare case of short stature with high total insulin like growth factor 1 (IGF-1) and a novel pregnancy-associated plasma protein A2 (PAPPA2) gene mutation.
  5. British Society of Paediatric Endocrinology and Diabetes 2019 – annual CME day presentation prize: Cottrell E, Ladha T, Borysewicz-Sańczyk H, Sawicka B, Savage MO, Bossowski AT, Storr HL. The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. J Endocrinol Invest. 2021 Jun;44(6):1331- 1334. doi: 10.1007/s40618-020-01433-z.2020. PMID: 32996068. 
  6. 2019 Endocrine connections most viewed article: 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.
  7. 2019 EJE Reader’s choice award (most significant contribution to the field): 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.
  8. 2018 British Endocrine Society Conference (Glasgow) best poster prize: Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A, Storr HL. Growth hormone receptor (GHR) 6Ω Pseudoexon activation: A novel cause of severe growth hormone insensitivity (GHI). J Clin Endocrinol Metab. 2021. Jul 28:dgab550. doi: 10.1210/clinem/dgab550. Online ahead of print. PMID: 34453441.

PhD Completion:

2012: Dr Claire Hughes
2014: Dr Rathi Prasad
2017: Dr Sasha Howard
2018: Dr Harshini Katugampola, Dr Muriel Meso
2022: Dr Sumana Chatterjee,
2023: Dr Lucy Shapiro, Dr Emily Cottrell

Media:

Contributions to triannual Child Growth Foundation (CGF) Newsletters (2020-current) latest edition:

  • Child Growth Foundation (Newsletter), March 2023
  • As winters's dark days loom, why vitamin D supplement experts explain why we still need a daily dose of sun...from a bottle (Mail Online), October 2011
  • Growth hormone stopped the bullying (BBC News), May 2010
  • Medical Mysteries, Season 1, Episode 7 (Channel 5)

Teaching

  • Undergraduate PBL facilitator, OSCE examiner, SSC and elective supervision (MBBS years 1-5)
  • MBBS academic advisor
  • Postgraduate MSc in Endocrinology

Topics for PhD/post-doctoral supervision: Childhood growth screening, novel genetic causes of childhood growth failure, molecular biology of childhood growth disorders

Disclosures

Professor Storr has received honoraria from Sandoz, Pfizer, Springer and Novo Nordisk for presenting at educational meetings and reviewing / developing educational materials. She is the national Chief Investigator and advises on the international steering committees for:

  • An international phase II, multicenter, open-label, non-comparative study to evaluate the pharmacokinetics, pharmacodynamics, and tolerability of osilodrostat in children and adolescent patients with Cushing’s disease (sponsored by Recordati)
  • Global Patient Registry to Monitor Long-term Safety and Effectiveness of Increlex® in Children and Adolescents with Severe Primary Insulin-like Growth Factor-1 Deficiency (SPIGFD) (sponsored by Ipsen)
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