BSc (Hons); PhD
My current research focuses on understanding the mechanisms resulting in endocrine tumour formation and developing targeted therapies particularly for pancreatic, pituitary and parathyroid tumours (Thakker, Oxford). By identifying and understanding the underlying genetic defects, we aim to establish improved diagnostic tools and targeted therapies that can be translated into improved patient care. This has included characterizing models of hyperparathyroidism-jaw tumour syndrome and multiple endocrine neoplasia type 1 (MEN1), and use of a somatostatin analogue to treat pancreatic and pituitary tumours in in vivo models.
Prior to this I have studied the role of protein arginine methyltransferase 5 (PRMT5) in the growth of ovarian tumour cells (La Thangue, Oxford), and have a broad interest in the field of genetic therapies, particularly in regard to vector development for systemic administrations for the treatment of cancer which included developing targeted adenoviral vectors for the treatment of prostate cancer (Seymour, Oxford). I have also worked on the detection of the human papillomavirus type 16 E2 regulatory protein in cervical tissue (Maitland, York).
My PhD was performed at the University of Birmingham and involved the development of in-situ hybridisation for the cytogenetic analysis of Allium.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin D. et al, (2023), J Invest Dermatol
Cinacalcet reverses short QT interval in Familial Hypocalciuric Hypercalcemia type 1
Cuny T. et al, (2023), The Journal of Clinical Endocrinology & Metabolism
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome
Kooblall KG. et al, (2023), JBMR Plus
Seizures in Sturge-Weber syndrome are associated with disrupted calcium metabolism
Zecchin D. et al, (2023), JOURNAL OF INVESTIGATIVE DERMATOLOGY, 143, S139 - S139