Dr Mark Handley

Profile

I am a career development fellow in functional genomics, working in the Medical Genetics research group of Professor Eamonn Sheridan. I moved to Leeds in 2017 in order to continue my work on the molecular pathology of Warburg Micro syndrome. I began this work at the MRC Human Genetics Unit (University of Edinburgh) where I was a postdoctoral researcher in the groups of Dr Irene Aligianis, Professor Ian Jackson and Professor David FitzPatrick. Prior to this, I completed a PhD supervised by Professor Bob Burgoyne at the University of Liverpool.

Research interests

Warburg Micro syndrome is a genetic disease caused by abnormalities in the DNA sequences an individual inherits from their parents. Children with this disorder are born with cataracts, their eyes are smaller than usual and don't respond normally to light. The children's physical development is affected in other characteristic ways, and they do not reach normal developmental milestones like walking and talking. Over time, they find it increasingly difficult to move their limbs and they become progressively paralysed. Although Micro syndrome is rare, understanding this condition can also help us to understand more common childhood and adult disorders.

The reason that Micro syndrome has very distinctive symptoms is that the changes that cause it to affect specific genes. The four identified so far are called RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20. RAB18 encodes one of a subfamily of proteins involved in establishing and maintaining compositional differences between lipid-enclosed ‘membrane compartments’ within cells. RAB3GAP1, RAB3GAP2 and TBC1D20 encode regulatory proteins that are essential for its normal function.

To identify new disease-associated genes for affected families, I use whole-exome and whole-genome sequencing approaches. To understand more about the cellular roles of the proteins encoded by the known genes, I use a range of techniques in molecular genetics, biochemistry and cell biology. In current work, I am studying a series of cellular models of disease generated by CRISPR/Cas9 technology.

Studentships

Competitive fully funded PhD scholarships are available within the Faculty Graduate School. Self-funded students are always welcomed to apply for postgraduate study. International students must meet the entry requirements for English. Bench fees are required. Please email m.handley@leeds.ac.uk for informal enquiries.

Qualifications

• PhD (University of Liverpool)
• MRes (University of Liverpool)
• BSc (University of Sheffield)

Student education

For postgraduate students, I give seminars on methods in molecular genetics and biochemistry, neurodevelopmental disease and paper criticism. I also supervise undergraduate and postgraduate students carrying out extended research projects in the lab.

Research groups and institutes

• Leeds Institute of Medical Research at St James's