Mole Group

Mole Lab

The Mole lab is particularly interested in neurodegenerative diseases affecting children. We focus on lysosomal disorders, especially the neuronal ceroid lipofuscinoses (NCLs) or Batten disease, which are inherited neurodegenerative diseases that start in childhood. We study their genetics, transcript complexity and biology, and are working to develop new and much-needed gene and small molecule therapies. One of the model organisms we use is the fission yeast Schizosaccharomces pombe which provides an excellent tractable cell model to study conserved disease genes. We curate the NCL mutation database.

Group Leader

Sara Mole, Professor of Molecular Cell Biology; UCL Envoy for Gender Equality.

Sara read Natural Sciences at Cambridge and undertook her PhD at Imperial College, followed by postdoctoral research funded by the Imperial Cancer Research Fund and Cancer Research UK. From an interest in inherited cancers, Sara developed a research portfolio around rare inherited metabolic diseases affecting children, particularly Batten disease. Sara established and led the European Union Consortium BATCure from 2016. She was also awarded the UCL Provost’s Prize for Excellence (Equality, Diversity, Inclusion), the UCL Provost’s Prize for Public Engagement (Senior Staff) and the Batten Disease Family Association Board of Trustees Award.

People

• Jose Clemente Ramos (Research Associate)
• Christopher Minnis (Research Associate)
• Emily Gardner (Research Associate)
• Haoyu Zhang (PhD Student)
• Hasna Alashi (PhD Student)

Key Collaborators

UCL:

• Paul Gissen (GOS ICH),
• Wendy Heywood (ICH),
• Helen Plun-Favrea,
• Ahad Rahim (SOP),
• Mina Ryten (GOS ICH),
• Chris Stefan (LMCB).

External Collaborators:

• Tris McKay (Manchester Metropolitan University, UK),
• Thomas Wishart (Roslin Institute, UK),
• Emyr Lloyd-Evans (Cardiff University, UK),
• Andrew Quigley (Diamond Light Source, UK),
• Angela Schulz (University Medical Centre Hamburg-Eppendorf, Germany),
• Diego Medina (Telethon Institute of Genetics and Medicine, Italy),
• Juan Bolanos (University of Salamanca, Spain),
• Claire Russell (Royal Veterinary College, UK).

Funders

• Medical Research Council,
• EU H2020 BATCure,
• Wellcome Trust,
• Children's Brain Disease Foundation USA,
• Biomarin,
• Batten Disease Family Association.

Selected Publications

• Zhang H-Y, Minnis C, Gustavsson E, Ryten M, Mole SE (2024). CLN3 transcript complexity revealed by long-read RNA sequencing analysis. BMC Medical Genomics 17, 244. doi: 10.1186/s12920-024-02017-z
• Dobloug S, Kjellström U, Anderson G, Gardner E, Mole SE, Sheth J, Puschmann A. (2024). Maculopathy and adult-onset ataxia in patients with bilallelc MFSD8 variants. Mol Genet Genomic Med. 12(8):e2505. doi: 10.1002/mgg3.2505
• Cox AL, Mole SE (2024). Five questions on improving diversity, equity and inclusion in UK bioscience research or “How can UK bioscience be changed so that those from marginalised groups can thrive?” BBA Advances. doi: 10.1016/j.bbadva.2024.10114
• Ofrim M, Little D, Naxari M, Minnis CJ, Devine MJ, Mole SE, Gissen P, Lorvellec M (2024). Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations. Stem Cell Res 74:103291. doi: 10.1016/j.scr.2023.103291
• Relton EL, Roth NJ, Yasa S, Kaleem A, Hermey G, Minnis CJ, Mole SE, Shelkovnikova T, Lefrancois S, McCormick PJ, Locker N (2023). The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. J Biol Chem, 299(5):104649. doi: 10.1016/j.jbc.2023.104649
• Lopez-Fabuel I, et al (2022). Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nat Commun 13(1):536. doi: 10.1038/s41467-022-28191-1
• Soldati S, et al (2021). Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. EMBO Molecular Medicine, 13(10): e13742. doi: 10.15252/emmm.202013742
• Iwan K, et al (2021). Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. F1000Research 10(614). doi: 10.12688/f1000research.54556.1
• Minnis CJ, et al (2021). Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. Scientific Reports. 11(1) 6332.  doi: 10.1038/s41598-021-85471-4
• SE Mole, et al (2021). Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients. Orphanet J Rare Dis. 16(185). doi: 10.1186/s13023-021-01813-5
• Lourenço CM, et al (2020). Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. J Paediatr Child Health. 57: 519-525. doi: 10.1111/jpc.15250
• K Iwan, et al (2021). Urine proteomics analysis of patients with Neuronal Ceroid Lipofuscinoses. Iscience 24(2) 102020 doi: 10.1016/j.isci.2020.102020

Alumni

• Jaimie Greenham: Research Assistant/PhD student. Development and Technology Manager, Cellmark, UK. 1994-1997
• Treasa Creavin: PhD student. Scientific Programme Development, Wellcome Genome Campus Advanced Courses and Scientific Conferences, Birkbeck, University of London, UK. 1994-1997
• Wayne Mitchell: PhD student. Researcher at Imperial Innovations, UK. 1997-2000
• Morwenna Porter: PhD student. Portfolio Eligibility Facilitator, NIHR Clinical Research Network, UK. 2000-2003
• Yella Martin: PhD student. HCP Editor, Medical News Today. 2000-2006
• Rebecca Haines: PhD student. NHS clinical scientist in Bioinformatics, Nottingham, UK. 2005-2008
• Mariana Vieria: PhD student. Investigator, Universidade da Madeira, Madeira. 2010-2013
• Davide Marotta: PhD student. Scientist, The Institute of Cancer Research, UK. 2011-2014
• Sophie Kleine Holthaus: PhD student. Postdoc, UCL Institute of Ophthalmology, UK. 2012-2015
• Rachel Brown: PhD student. International Policy Officer, The Academy of Medical Sciences, UK. 2012-2015
• Christopher Minnis: PhD student. Research Associate, UCL GOSH Institute of Child Health. 2016-2019
• Yaxuan Lyu: PhD student. 2017-2021
• Hannah Mitchison: Research Associate. Head of Department, UCL GOSH Institute of Child Health, Genetics and Genomics Department. 1992-1998
• Patricia Munroe: Research Associate. Professor of Molecular Medicine, St Bartholomew’s and The London School of Medicine and Dentistry, UK. 1993-1998
• Kit-Yi Leung: Research Associate. Lecturer, St Bartholomew’s and The London School of Medicine and Dentistry, UK. 1997-2001
• Julie Sharp: Research Associate. Head of Health & Patient Information, CRUK, UK. 1994-2002
• Ruth Wheeler: Research Associate. Clinical Laboratory Scientist, Viapath LLP, St Thomas’ Hospital, UK. 1993-2002
• Sandra Codlin: Research Associate. Biosciences Teaching Laboratory Manager, Birkbeck, University of London, UK. 2002-2009
• Claudia Kitzmuller: Research Associate. Medizinische Universitaet Wien (General Hospital Vienna), Austria. 2004-2008
• Michael Bond: Research Associate. MRC Technology, UK. 2001-2014
• Julia Petschnigg: Research Associate. 2016-2017
• Sophia kleine Holthaus: Research Associate. 2015-2019
• Mikel Aristorena: Research Associate. 2016-2021
• Elisa Tinelli: Research Associate. 2015-2020

Principal Investigator

Professor Sara Mole - UCL Profiles page

Contact us

Inborn Errors of Metabolism Section
UCL Great Ormond Street Institute of Child Health
30 Guilford Street
London
WC1N 1EH

Useful links

• BATCure
• NCL Mutation Database
• PubMed
• Sara Mole Wikipedia Page
• Sara Mole Facebook & X handle: @SaraEMole
• UCL Inaugural Lecture