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.
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
Hannan FM. et al, (2021), Hum Mol Genet
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.
Lines KE. et al, (2020), J Endocr Soc, 4
Aberrant methylation underlies insulin gene expression in human insulinoma.
Karakose E. et al, (2020), Nat Commun, 11
Multiple endocrine neoplasia type 1 (MEN1) 5' UTR deletion, in MEN1 family, decreases menin expression.
Kooblall KG. et al, (2020), J Bone Miner Res
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
Stevenson M. et al, (2020), Am J Med Genet A