Rare Disease Oncogenomics

Exploring unconventional T cells in Merkel cell carcinomas using immunogenomic methods | Dr Richard Tothill

The Rare Disease Ocogenomics group's work on Merkel cell carcinoma has shown the existence of an under studied type of T cell infiltrating these tumours, which likely has prognostic and therapeutic significance for patients with this rare but aggressive type of skin cancer.

Single-cell and bulk gene expression analysis of rare neuroendocrine tumours | Dr Andrew Pattison

We used single nuclei RNA-Seq to better understand the relationship of tumour cells and the tumour microenvironment in phaeochromocytoma and paraganglioma.

Patterns of somatic genetic alteration reveal the life history of a cell | Dr Aidan Flynn

Combined analysis of oncogenic drivers, mutational signatures and positional mutation profiling can provide a robust clinical tool for diagnosis of cancer cell of origin.

A5 SDHB Genomics: Using multi-omics to dissect a rare cancer of the sympathetic nervous system | Associate Prof Richard Tothill

A5 SDHB study is a collaborative multi-national study using advanced genomic methods to understand a rare heritable disease that arises from cells of the sympathetic nervous system.

RNA and DNA panel testing augments the histopathological workup of cancer of unknown primary

Incorporating genomic profiling into a histopathology workup can help resolve cancers of unknown primary and help to unmask the true identity of this enigmatic disease.

Genomic correlates of aggressive prostate cancer: Revisiting the role for MYC in tumorigenesis and recurrence

Gain or amplification of the MYC locus is associated with early clinical progression in prostate cancer but inaccurately types tumours with high MYC activity.

Characterisation of Merkel cell carcinoma links interferon response and neuroendocrine differentiation to patient survival outcome

Distinct patterns of IFNg response and neuroendocrine differentiation were identified in MCC cell lines that each had prognostic significance in MCC patients.

Improving the diagnosis and treatment of Cancer of Unknown Primary using genomic profiling and patient-derived organoids

The current thesis investigated the use of genomic tests to improve diagnosis and treatment for Cancer of Unknown Primary (CUP)

Circulating tumour DNA in phaeochromocytoma and paraganglioma: needle in a haystack?

Developing ultrasensitive methods to detect circulating tumour DNA from slow-growing rare cancers to assist with diagnosis and treatment selection.