Research Synopsis
The Mole 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 particularly interested in neurodegenerative diseases. We focus on lysosomal disorders, especially the neuronal ceroid lipofuscinoses (NCLs) or Batten disease, which are inherited neurodegenerative diseases that start in childhood. We work along the full translational pathway, studying their genetics and biology, and are developing new and much-needed therapies. Our work will help to provide new therapeutic targets for all types of neurodegeneration.
Selected Publications
About the lab
Funders
Research Themes
Technology
People
Collaborators
Paul Gissen (LMCB, UK)
Robin Ketteler (LMCB, UK)
Robin Ali (UCL, UK)
Ahad Rahim (UCL, UK)
Tris McKay (Manchester Metropolitan University, UK)
Thomas Wishart (Roslin Institute, UK)
Emyr Lloyd-Evans (Cardiff University, UK)
Heather Band (Batten Disease Family Association, UK)
Angela Schulz (University Medical Centre Hamburg-Eppendorf, Germany)
Torbjorn Lundstedt (AcureOmics, Sweden)
Maija Dambrova (Latvian Institute of Organic Synthesis, Latvia)
Diego Medina (Telethon Insitute of Genetics and Medicine, Italy)
Juan Bolanos (University of Salamanca, Spain)
Jan Kehr (Pronexus Analytics, Sweden)
Claire Russell (Royal Veterinary College, UK)
Thomas Kirkegaard (Orphazyme, Denmark)
Jonathan Cooper (Los Angeles Biomedical Research Institute, USA)
Marc Masa (LEITAT Technological Center, Spain)