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Dr Carles Gaston-Massuet

Carles

Reader in Developmental Genetics and Endocrinology

Centre: Endocrinology

Email: c.gaston-massuet@qmul.ac.uk
Telephone: +44(0) 20 7882 2115

Profile

ORCID iD: 0000-0002-6793-3118

I trained in Biomedical Sciences at the University of Barcelona, including an exchange programme at King’s College London. I completed a PhD in Developmental Genetics at University College London (UCL), Institute of Child Health–Great Ormond Street Hospital, under the supervision of Professor Andrew Copp, studying the genetics of central nervous system birth defects.

In 2009, I was awarded a Research Fellowship from the NIHR to specialise in the genetics of endocrine diseases, ranging from paediatric pituitary tumours to the identification of genes causing hypothalamic–pituitary dysfunction.

In 2013, I established an independent research group at the Centre for Endocrinology, William Harvey Research Institute, St Bartholomew’s Hospital, Queen Mary University of London. Since then, I have secured competitive funding from major charities and research councils and was promoted to Reader (Associate Professor) in Developmental Genetics and Endocrinology. I am also a Fellow of the Higher Education Academy & active member of European Society of Paediatric Endocrinology (ESPE), British Society of Paediatric Endocrinology (BSPE) and the Genetics Society.

Research

Group members

Developmental Genetics and Tumorigenesis Group:

  • Jingyi Xue, Bryan Finn, Josh Perkins, Sharon Paul.

Summary 

Our research focuses on deciphering the molecular mechanisms that govern the development, homeostasis, and disease of the hypothalamic-pituitary (HP) axis, the central endocrine regulator essential for life. The HP-axis orchestrates body homeostasis by controlling metabolism, fertility, reproduction, stress responses, growth and electrolyte balance. Disruption of its development or function leads to endocrine disorders, including congenital hypopituitarism, infertility, growth restriction and endocrine tumours. Despite its fundamental importance, the mechanisms that coordinate the integrated development, stem cell plasticity, and long-term maintenance of this endocrine master regulator remain poorly understood.

My laboratory addresses this critical gap by investigating how pituitary progenitor/stem cells contribute to tissue homeostasis and tumorigenesis. We are particularly interested in understanding (i) the molecular switches that determine how stem cells drive early tumorigenesis (ii) the role of stem cells in lifelong endocrine maintenance and disease (iii) the signalling networks that govern cell fate decisions, and finally (iv) how the above can be harnessed to identify treatments.

Our lab uses a combination of phenotyping state-of-the-art transgenics models, molecular biology coupled with modern proteomic/transcriptomics and patient genomic data to provide novel insights into the origins of complex hypothalamic-pituitary disorders and endocrine related cancers. Ultimately, our work aims to define how endocrine cells are generated, maintained, and adapted in response to physiological demand, paving the way for improved diagnosis and therapeutic strategies for disorders of growth, metabolism, reproduction and endocrine tumours.

Selected publications:

  1. Gaston-Massuet C, et al. Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans.PNAS. 2011;108(28):11482-7.
  2. Gaston-Massuet C, et al. Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans. PNAS. 2016;113(5):E548-E57.
  3. Rai A, Yet al. Phosphorylation of β-catenin at Serine552 correlates with invasion and recurrence of non-functioning pituitary neuroendocrine tumours. Acta neuropathologica communications. 2022;10(1).
  4. Gualtieri A, et al. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans. Nat Commun. 2021;12(1):2028.
  5. Giri D, et al. Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. Hum Mol Genet. 2017;26(22):4315-26.
  6. Kaygusuz SB, et al. Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects. J Clin Endocrinol Metab. 2021;106(10):e4142-e54.

Publications

  • Chatterjee S, Ishida M, Bertola DR et al. (2025). Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling. nameOfConference


  • Mariniello K, Pittaway JFH, Altieri B et al. (2025). Dlk1 is a novel adrenocortical stem/progenitor cell marker that predicts malignancy in adrenocortical carcinoma. nameOfConference


  • Gualtieri A, Gomez-Corral L, Nicholson J et al. (2024). 12408 Efnb2 Controls Pituitary Gland Development By Regulating Proliferation Of Pituitary Stem Cells. nameOfConference


    QMRO: qmroHref
  • Gualtieri A, Gomez-Corral L, Nicholson J et al. (publicationYear). Efnb2 controls pituitary development by regulating the pituitary stem cell niche. nameOfConference


    QMRO: qmroHref
  • Rolas L, Stein M, Barkaway A et al. (2024). Senescent endothelial cells promote pathogenic neutrophil trafficking in inflamed tissues. nameOfConference


  • Garcia-Rendueles AR, Chenlo M, Oroz-Gonjar F et al. (2023). Correction: RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas. nameOfConference


  • Sanpawithayakul K, Mistry A, Rai A et al. (publicationYear). Hindering the progression of cardiac fibrosis in acromegaly - the role of somatostatin receptor ligands. nameOfConference


  • Scagliotti V, Vignola ML, Willis T et al. (publicationYear). Imprinted Dlk1 dosage as a size determinant of the mammalian pituitary gland. nameOfConference


    QMRO: qmroHref
  • Escuin S, Rose Raza-Knight S, Savery D et al. (2023). Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse.. nameOfConference


    QMRO: qmroHref
  • Rai A, Yelamanchi SD, Radotra BD et al. (2022). ODP368 Hyper-phosphorylation of β-catenin at Serine552: predictive marker of invasion and recurrence of Non-Functioning Pituitary Tumours (NFPTs). nameOfConference


View profile publication page

Sponsors

Collaborators

External

Internal 

Centre for Endocrinology (WHRI)

  • Professor Marta Korbonits (pituitary adenomas), Professor in Endocrinology
  • Dr Leo Guasti (Wnt in adrenal gland zonation), Professor in Experiemental Endocrinology
  • Dr Sasha Howard (hypothalmaic-pituitary-gonadal axis biology), Associate Professor in Paediatric Endocrinology
  •  

Blizard Institute (QMUL)

  • Professor Tim Warner

Barts Cancer Institute: Centre for Cancer and Inflammation (QMUL)

Head of the Mouse Cyro-Preservation FMD Transgenic Unit

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