The Barts Pituitary Centre's research focus is captured by two overarching objectives:

• Optimising diagnostic and therapeutic potential for management of pituitary disease, including improved genetic and clinical diagnosis and introducing novel therapeutic options, such as neonatal gonadotrophin therapy for hypothalamic-pituitary-gonadal axis failure to improve fertility outcomes or craniopharyngioma therapeutics based on somatic genetic variant profiling.
• Establishing the genetic bases of hypothalamo-pituitary dysfunction either due to pituitary tumours (adenomas and craniopharyngioma) or due to lack of function (pubertal disorders or congenital hypopituitarism). This will allow rapid diagnosis of pituitary conditions allowing for early intervention, prediction of progression, family screening and targeted follow-up, thus sparing non-carrier family members from investigations.

The pituitary gland is the master regulator of physiological homeostasis essential for life. Together with upstream stimulation from the hypothalamus, the pituitary secretes key hormones that constitute the hypothalamo-pituitary axis, the central regulator of essential functions including reproduction, growth, stress response, water homeostasis and metabolism. Deficiency or overproduction of pituitary hormones lead to clinically complex diseases requiring lifelong multidisciplinary medical care.

Whilst some of these conditions, such as disordered puberty, affect up to 4% of the population, other pituitary diseases are less frequent, but have a considerable impact for the individual patients, their families and burden on the health system. A significant proportion of pituitary disorders have a genetic basis, but in the majority the exact genetic cause is unknown. Understanding the molecular basis of a patient’s pituitary failure and/or tumour has the potential to provide the basis for the development of future, more advanced therapies as well as providing immediate, vital clinical information about possible associated syndromic abnormalities that help facilitate comprehensive and holistic care. Thus, this pituitary programme serves the enhancement of patient care for the 1500 patients with pituitary disorders within Barts Health, but also for the wider NHS and international patient and scientific community.

This programme, compromising four work streams, brings together research from five recognised principal investigators within the pituitary biology field, covering basic, translational molecular biology and genetics.

1. Improving the diagnosis and clinical management of patients with disordered puberty (S Howard and L Dunkel)
2. Unravelling genetic causes of isolated and syndromic congenital hypopituitarism (E Gevers and C Gaston-Massuet)
3. Improving the diagnostic and treatment opportunities for patients with craniopharyngioma (C Gaston-Massuet, E Gevers, M Korbonits)
4. Genetics of pituitary adenoma (M Korbonits, V Cipriani and M Traylor)
   

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