The Mole Laboratory

The lab is interested in disease caused by genetic changes, and how study of these mutations and their effects can reveal important and complex aspects of cell biology that may otherwise be beyond current appreciation. We are interested in neurodegenerative diseases in particular. The molecular basis for most late onset adult cases is unknown, however, a small % is genetic, often causing early onset, and some genes have been identified. Combinations of variations in many of these genes are likely to contribute to the later onset disease. Identifying and characterising the biology of new neurodegenerative genes will give invaluable information on pathways that lead to neurodegeneration. These pathways will provide new therapeutic targets to delay onset of neurodegeneration.

We have focused for many years on the molecular genetics and biology of the neuronal ceroid lipofuscinoses (NCL), or Batten disease. These are the most common neurodegenerative disorders of childhood. Children suffer from neurodegeneration, including progressive blindness and seizures, leading to premature death. The disease is characterised by the early accumulation of autofluorescent material in the lysosomes of most cells, and the eventual death of cortical neurons. Since lipofuscin accumulates during the normal ageing process, understanding the molecular basis of NCL disease may shed light on the biology of late onset neurodegeneration and even ageing. We are also interested in Chediak-Higashi Syndrome, another severe lysosome storage disorder.

Our approach is to use molecular genetics to identify disease genes, and to use mammalian cell systems and a simple model system to extend our knowledge of the biology of these genes. We currently use Schizosaccharomyces pombe, a fission yeast, which has many small vacuoles, like mammalian lysosomes.

For more details on our research, visit the Mole web page, hosted by the UCL MRC Laboratory for Molecular Cell Biology, where the lab is located.

Other useful links include the NCL Resource web site, which includes the Mutation Database for the NCLs, and which hosts this web page, and the Rare NCL Gene Consortium, which I coordinate.

Principal Investigator

Dr Sara Mole
MRC Laboratory for Molecular Cell Biology, University College London
Gower Street, London WC1E 6BT, Tel: +44 207 679 7257

Current lab members

Postdoctoral Fellows:
Research students: vacancy currently advertised on FindaPhD

Former lab members

Postdoctoral Fellows: Dr Sandra Codlin, Dr Claudia Kitzmüller, Dr Yannick Gachet, Dr Ruth Wheeler, Dr Julie Sharp, Dr Kit-Yi Leung, Dr Patricia Munroe, Dr Hannah Mitchison, Dr Angela O'Rawe, Dr Irma Jarvela.

Research students: Ms Rebecca Haines, Ms Yella Martin, Ms Morwenna Porter, Mr Wayne Mitchell, Ms Treasa Creavin, Mr Jaimie Greenham

Research technicians: Ms Eve Macheda.

Visiting undergraduate students: Ms Stephanie Louvert, Ms Celine Robart (Student Technicians); Mr David Boclair.


A publication list is maintained and updated dynamically by UCL.