Sara Elizabeth Mole

Professor Sara Elizabeth Mole is a distinguished Professor of Molecular Cell Biology at University College London's Genetics & Genomic Medicine Department within the Great Ormond Street Institute of Child Health. With over three decades of academic experience since joining UCL in 1992, she has established herself as an international authority in the field of neuronal ceroid lipofuscinoses (NCL), commonly known as Batten disease. In addition to her research leadership, Professor Mole serves as UCL's Envoy for Gender Equality and Chair of Advance HE Athena Swan Governance Committee, demonstrating her commitment to both scientific advancement and institutional equity.

Professor Mole received her academic training at prestigious UK institutions:

• Bachelor of Arts (Honours) in Natural Sciences (Biological) from University of Cambridge (1983)
• Master of Arts from University of Cambridge (1987)
• Doctor of Philosophy from Imperial College of Science, Technology and Medicine (1986)

Professor Mole has developed an international reputation in translational disease research for the neuronal ceroid lipofuscinoses (NCL), a family of inherited pediatric neurodegenerative lysosomal storage diseases. Her research focuses on delineating the genetics and biology of these conditions to open new avenues for therapeutic development while also providing insights into more common neurodegenerative conditions and fundamental cellular biology. She has pioneered the use of the model organism fission yeast Schizosaccharomyces pombe for lysosomal disease research and maintains the NCL Resource website containing the comprehensive NCL gene mutation database.

Her laboratory investigates the molecular and cellular mechanisms underlying Batten disease, with particular emphasis on CLN3, CLN6, and CLN7 genes. Current projects include developing novel biosensors to measure ions in intracellular compartments, identifying functional complexity of transcripts from disease genes, and conducting high-throughput screening to identify small molecules that can restore cellular defects associated with NCL gene mutations. Her team is actively working to translate these findings into potential gene and small molecule therapies for these devastating childhood conditions.

Professor Mole's recent publications demonstrate a strategic evolution in her research program, moving from fundamental genetic characterization toward therapeutic development and implementation. Her work increasingly integrates multi-omics approaches with cellular and animal models to understand disease mechanisms at molecular resolution. Notably, there's a growing emphasis on translational applications, including drug repurposing (particularly tamoxifen), nanocarrier delivery systems, and AAV gene therapy approaches. Her 2022-2025 publications reveal expanding interests in real-world data applications for rare diseases, patient and family impact studies, and addressing sex bias in Batten disease research, reflecting a more holistic approach to rare disease investigation that bridges laboratory science with clinical and societal considerations.

Professor Mole's significant contributions to science and academia have been recognized through numerous prestigious awards:

• UCL Provost's Award for Excellence (2018) - specifically for Equality, Diversity, and Inclusion
• Athena SWAN Gold Award (2016) - first UCL department to achieve this distinction
• UCL Provost's Award for Public Engagement (Senior Staff) (2012-2013)
• Batten Disease Family Association Board of Trustees Award
• Athena SWAN Silver Award (2009) - first UCL department to achieve this

Professor Mole has mentored numerous PhD students and postdoctoral researchers throughout her career, with many alumni now holding significant positions in academia, industry, and healthcare. Her laboratory has been consistently supported by major funding bodies including the Medical Research Council, European Union (through FP6, FP7, and H2020 BATCure consortium), Wellcome Trust, Children's Brain Disease Foundation USA, Biomarin, and the Batten Disease Family Association. As coordinator of the €6M H2020 BATCure consortium (2016-2019), she led a multinational effort involving 14 European partners focused on developing treatments for Batten disease. Her grant portfolio reflects a strategic approach spanning basic science, translational research, and clinical implementation, with increasing emphasis on collaborative, multi-institutional projects addressing the complex challenges of rare disease research and treatment development.

Professor Mole leads the Mole Lab at UCL's Great Ormond Street Institute of Child Health, which focuses on neurodegenerative diseases affecting children, particularly lysosomal disorders and Batten disease. Her team employs a multidisciplinary approach combining molecular genetics, cell biology, and model organism research (notably using fission yeast Schizosaccharomyces pombe as a tractable cell model). The lab maintains strong collaborative networks both within UCL (including with Paul Gissen, Wendy Heywood, and Mina Ryten) and with external partners across Europe and the US. Professor Mole also coordinates the international BATCure consortium and leads the NCL Mutation Database curation effort, creating a global resource for researchers and clinicians working on these rare disorders.