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Group purpose:
Neuronal ceroid-lipofuscinoses / Batten disease
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 and biology, and are working to develop new and much-needed 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.
People:
- Jose Clemente Ramos (Research Associate)
- Christopher Minnis (Research Associate)
- Haoyu Zhang (PhD Student)
Collaborators:
- Robin Ketteler (LMCB, UCL, UK)
- Chris Stefan (LMCB, UCL, UK)
- Robin Ali (KCL, UK)
- Ahad Rahim (SOP, UCL, UK)
- Paul Gissen (GOS ICH, UCL, UK)
- Mina Ryten (GOS ICH, UCL, UK)
- 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)
- Jonathan Cooper (Washington University, USA)
Funders:
- Medical Research Council
- EU H2020 BATCure
- Wellcome Trust
- Children's Brain Disease Foundation USA
- Biomarin
- Batten Disease Family Association
Selected Publications:
- 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:
Name | Year | Position held in lab | Current position |
Jaimie Greenham | 1994-1997 | Research Assistant/PhD student | Development and Technology Manager, Cellmark, UK |
Treasa Creavin | 1994-1997 | PhD student | Scientific Programme Development, Wellcome Genome Campus Advanced Courses and Scientific Conferences, Birkbeck, University of London, UK |
Wayne Mitchell | 1997-2000 | PhD student | Researcher at Imperial Innovations, UK |
Morwenna Porter | 2000-2003 | PhD student | Portfolio Eligibility Facilitator, NIHR Clinical Research Network, UK |
Yella Martin | 2000-2006 | PhD student | HCP Editor, Medical News Today |
Rebecca Haines | 2005-2008 | PhD student | NHS clinical scientist in Bioinformatics, Nottingham, UK |
Mariana Vieria | 2010-2013 | PhD student | Investigator , Universidade da Madeira, Madeira |
Davide Marotta | 2011-2014 | PhD student | Scientist, The Institute of Cancer Research, UK |
Sophie Kleine Holthaus | 2012-2015 | PhD student | Postdoc, UCL Institute of Ophthalmology, UK |
Rachel Brown | 2012-2015 | PhD student | International Policy Officer, The Academy of Medical Sciences, UK |
Christopher Minnis | 2016-2019 | PhD student | Research Associate, UCL GOSH Institute of Child Health |
Yaxuan Lyu | 2017-2021 | PhD student |
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Hannah Mitchison | 1992-1998 | Research Associate | Head of Department, UCL GOSH Institute of Child Health, Genetics and Genomics Department |
Patricia Munroe | 1993-1998 | Research Associate | Professor of Molecular Medicine, St Bartholomew’s and The London School of Medicine and Dentistry, UK |
Kit-Yi Leung | 1997-2001 | Research Associate | Lecturer, St Bartholomew’s and The London School of Medicine and Dentistry, UK |
Julie Sharp | 1994-2002 | Research Associate | Head of Health & Patient Information, CRUK, UK |
Ruth Wheeler | 1993-2002 | Research Associate | Clinical Laboratory Scientist, Viapath LLP, St Thomas’ Hospital, UK |
Sandra Codlin | 2002-2009 | Research Associate | Biosciences Teaching Laboratory Manager, Birkbeck, University of London, UK |
Claudia Kitzmuller | 2004-2008 | Research Associate | Medizinische Universitaet Wien (General Hospital Vienna), Austria |
Michael Bond | 2001-2014 | Research Associate | MRC Technology, UK |
Julia Petschnigg | 2016-2017 | Research Associate |
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Sophia kleine Holthaus | 2015-2019 | Research Associate |
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Mikel Aristorena | 2016-2021 | Research Associate |
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Elisa Tinelli | 2015-2020 | Research Associate |
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