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Prof Sara Mole
Prof Sara Mole profile picture
  • Professor of Molecular Cell Biology
  • Genetics & Genomic Medicine Dept
  • UCL GOS Institute of Child Health
  • Faculty of Pop Health Sciences

I read Natural Sciences (Biological) at Cambridge with biochemistry in my final year. I moved to Imperial College for a PhD in cancer research under David Lane, staying with him at the Imperial Cancer Research Fund for my first postdoctoral appointment. I became interested in the potential of molecular genetics, so joined the lab of Bruce Ponder at the University of Cambridge for 3 years using positional cloning to identify the inherited cancer gene MEN2A. After 3 years I applied for fellowships and lectureships to allow me to develop my independent research. I was appointed to UCL in 1992, to work in the molecular genetics section of the Department of Paediatrics (Head of Department Mark Gardiner, a paediatrician) and began working on identifying genes for Batten disease. In 2005 I was invited to move my lab to the MRC Laboratory of Molecular Biology (LMCB) which allowed research on the molecular and cell biology of disease genes. In 2022 I moved my lab to Great Ormond Street Institute of Child Health.

I have developed excellent and longterm collaborations within UCL, the UK and internationally. I have led workpackages in EU FP6 and FP7 projects and was coordinator of H2020 BATCure, a consortium of 14 European partners, €6M, 2016-2019.

Whilst at the LMCB I led the department to improve gender equality by chartering for an Athena SWAN silver award in 2009, the first UCL depts to do so, and then for the first Gold award at UCL in 2016.  This led to my appointment as UCL’s Envoy for Gender Equality and support for the institute to improve gender equality throughout. I have undertaken significant public engagement work around Batten disease.

Research Summary

I have an international reputation in translational disease research for the neuronal ceroid lipofuscinoses (NCL), a family of inherited paediatric neurodegenerative lysosomal storage diseases also known as Batten disease. I have worked to delineate their genetics and biology to open new avenues for therapeutic development as well as understanding more common neurodegenerative conditions and the basic biology of cells.

My collection of samples enabled the identification of most known NCL genes between 1995 to 2013 including identifying the first elusive adult onset gene. I predicted early on that the phenotypes of disease arising from CLN genes would be much broader than classic NCL diseases. Towards this I established the web site NCL Resource which contains the NCL gene mutation database, and lead internationally on interpretation and understanding the increasingly broad genotype-phenotype correlations of NCL genes. I contribute to guide recommendation of good practice for diagnosis, assessment, treatment and management. 

I have a particular interest in the biology of CLN3, a highly conserved gene, and of CLN6 and CLN7. I pioneered the use of the model organism fission yeast Schizosaccharomyces pombe for lysosomal disease research. For CLN3/Btn1 we showed an effect beyond the lysosome and its centrality to the activation of core signalling pathways in response to stress. We are developing novel biosensors to measure ions in yeast intracellular compartments. We are identifying the functional complexity of transcripts arising from the common intragenic deletion of CLN3. A protein equivalent to one transcript has lost, retained and gained new functions. High throughput screening identified small molecules that restore defects associated with full or partial loss of yeast disease genes and in cells from patients. The efficacy of our most promising compound is being compared with one already in the clinic for other lysosomal diseases.

DEC-2017 UCL Envoy for Gender Equality   University College London, United Kingdom
01-APR-2017 – 31-MAR-2020 Great Ormond Street Hospital Children’s Charity Professor UCL Great Ormond Street Institute of Child Health University College London, United Kingdom
01-OCT-2016 Professor in Molecular Cell Biology GOS Institute of Child Health University College London, United Kingdom
01-OCT-2004 – 30-SEP-2016 Reader in Molecular Cell Biology MRC Laboratory for Molecular Cell Biology University College London, United Kingdom
01-OCT-1997 – 30-SEP-2004 Senior Lecturer in Molecular Genetics Paediatrics and Child Health UCL, United Kingdom
01-OCT-1992 – 30-SEP-1997 Lecturer in Molecular Genetics Paediatrics UCL, United Kingdom
Academic Background
1987   Master of Arts University of Cambridge
1986   Doctor of Philosophy Imperial College of Science, Technology and Medicine
1983   Bachelor of Arts (Honours) University of Cambridge
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