Dr Mark Harland

Profile

I am a molecular biologist in the melanoma research group.

I undertook my PhD at Liverpool University where I used DNA fingerprinting techniques to assess the level of genetic variation in a very rare and inbred population of cattle: the Irish Moiled. During the course of my PhD I spent much time travelling around remote parts of England and Northern Ireland to collect blood samples from inbred and half-wild cattle. The cattle were never very happy to be stuck in the tail with a sharp needle, and I discovered that, contrary to popular belief, cattle are able to kick backwards. On moving to Leeds to work on melanoma in humans, I found blood samples much easier to come by and without many of the dangers inherent to bovine research.

I moved to the Cancer Research Institute, at St. James’s Hospital, as a research assistant in 1996. My main research interest has been the investigation of the genetic causes underlying predisposition in families with multiple cases of melanoma. Through careful investigation of CDKN2A and associated genes, the genetic cause of predisposition has now been identified in over 50% of UK melanoma pedigrees.

Now working as a Senior Scientific Officer in the Section of Epidemiology and Biostatistics, I continue to investigate the genetic causes of disease predisposition in the remaining 50% of melanoma families. The availability of Next Generation Sequencing technology makes this a very exciting time for melanoma research, with a number of interesting new predisposition genes potentially on the horizon.

Melanoma, family studies, predisposition, genetic epidemiology, GWAS, genome-wide association studies, linkage analysis, tumour, DASL, genotyping, SNPs, gene expression, NGS, Next Generation Sequencing, outcome, susceptibility, prognosis, sun exposure

Previous and current roles\n \n \n \n \n

1998-present, Senior Scientific Officer, Section of Epidemiology and Biostatistics, University of Leeds \n \n \n

1997-1998, Research Fellow, ICRF Cancer Medicine Research Unit, Leeds \n \n \n

1996-1997, Research Assistant, ICRF Cancer Medicine Research Unit, Leeds \n \n \n \n \n \n

Research interests

In the melanoma group, led by Professor Newton Bishop, we have studied families with multiple cases of melanoma in order to identify high penetrance genes which predispose individuals to disease. We have been successful in identifying the underlying genetic cause of predisposition to melanoma in the majority of these families. We were able to identify mutations in the tumour suppressor gene CDKN2A in many families. In addition, we were able to identify unique, non-coding, splice and intronic variants of this gene that we showed would also disrupt the function of the tumour suppressor.

More recently, collaborating with Dr David Adam's group at the Wellcome Trust Sanger Institute, we have used next generation sequencing technology to search for novel genetic changes that might explain predisposition in those families that do not carry a CDKN2A mutation. Through this collaboration we were the first research group to identify mutations in the Protection Of Telomeres (POT1) gene which we showed leads to telomere dysfunction and predisposes carriers to disease.

To investigate lower penetrance genes and the interaction between genes and the environment, we are currently recruiting a large cohort of melanoma patients, their families and matched population controls. We have also been studying patients who have relapsed with melanoma and will compare them to controls who have not relapsed in order to look at factors associated with prognosis.

• Using bespoke IL-23/IL-17A and IL-17F axis gene cards to Gain Clues into Understanding Synovial Mechanisms of Refractory Psoriatic Arthritis

Qualifications

• PhD Molecular Genetics
• Bsc (Hons) Microbiology

Professional memberships

• The Society for Melanoma Research

Research groups and institutes

• Leeds Institute of Medical Research at St James's