Developing new therapies for motor neuron disease (SMA and ALS)

About the project

Work in our laboratory is trying to identify new and effective ways to protect motor neurons (and other affected cells and tissues of the body) against disease in both childhood and adult forms of MND. A lot of our focus is currently on spinal muscular atrophy (SMA), where we are using both drug-based and gene therapy-based approaches to target key disease pathways. In particular, we are focussing on so-called ‘combinatorial therapies’ where you bring together multiple treatments in order to get maximum clinical benefit. We are also exploring how therapies developed for SMA may be applicable to help patients with ALS.

Funder(s)

UK SMA Research Consortium (SMA Trust); SMA Europe; MND Scotland; Wellcome Trust; Medical Research Council; Anatomical Society

Publication(s)

Groen EJN, Talbot K, Gillingwater TH

Advances in therapy for spinal muscular atrophy: promises and challenges

Nat Rev Neurol. 2018 Apr;14(4):214-224

DOI: 10.1038/nrneurol.2018

Bernabò P, Tebaldi T, Groen EJN, Lane FM, Perenthaler E, Mattedi F, Newbery HJ, Zhou H, Zuccotti P, Potrich V, Shorrock HK, Muntoni F, Quattrone A*, Gillingwater TH*, Viero G* (*joint senior/corresponding authors)

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

Cell Rep. 2017 Oct 24;21(4):953-965

DOI: 10.1016/j.celrep.2017.10.010

Wishart TM, Mutsaers CA, Riessland M, Reimer MM, Hunter G, Hannam ML, Eaton SL, Fuller HR, Roche SL, Somers E, Morse R, Young PJ, Lamont DJ, Hammerschmidt M, Joshi A, Hohenstein P, Morris GE, Parson SH

Skehel PA, Becker T, Robinson IM, Becker CG, Wirth B, Gillingwater TH

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

J Clin Invest. 2014 Apr;124(4):1821-34

DOI: 10.1172/JCI71318

Dinja van der Hoorn, Fabio Lauria, Helena Chaytow, Kiterie M. E. Faller,

Yu-Ting Huang, Rachel A. Kline, Ilaria Signoria, Kim Morris, Thomas M. Wishart

Ewout J. N. Groen, Gabriella Viero, and Thomas H. Gillingwater

Dynamic modulation of the motor neuron translatome during developmental synapse elimination

Science Signaling 2025 Apr 15

DOI: https://doi.org/10.1126/scisignal.adr0176

Primary location

Edinburgh

Principal Investigator

Prof Tom Gillingwater

Other people involved

Dr Ewout Groen Dr Helena Chaytow Dr Nikky Huang Dr Kiterie Faller Ines Boehm Leire Ledahawsky Dinja van der Hoorn