| Title of PI | Creating a new model of MND using stem cell technology |
| Title | Forname | Surname | Institution | Country |
| Professor | Siddarthan | Chandran | University of Edinburgh | UK |
| Professor | Ian | Wilmut | University of Edinburgh | UK |
| Professor | Tom | Maniatis | Columbia University | USA |
| Professor | Christopher | Shaw | King’s College London | UK |
| Institution | University of Edinburgh, Chancellors Building |
| Street Address | 47 Little France Crescent |
| City | Edinburgh |
| Postcode | EH16 4SB |
- United Kingdom
960000
01-06-2010
36
- Motor neurone diseases
fibroblasts, induced pluripotential stem cells, iPS cells, motor neurons, astrocytes
The discovery that TDP-43 is the major protein within ubiquitinated cytoplasmic inclusions – the hallmark pathology in 90% of familial and sporadic cases – and the recent identification of causitive TDP-43 mutations in 1-4% of familial and sporadic cases, highlights the need for cellular models to address the consequences of mutant TDP-43 in both motor neurons and astrocytes. Recent discoveries in reprogramming and resulting derivation of human iPS cell lines permit human-based models to study the consequences of disease-causing mutations. Against this background, our derivation and validation of TDP-43 mutant and control iPS lines offers new opportunities ofr the development of an in vitro human disease model of MND. specifically, this collaborative project will exploit the unique opportunity of deriving patient-specific motor neurons and astrocytes carrying disease causing TDP-43 mutations in order to addess key questions concerning autonomous and non-cell autonomous mechanisms of motor neuron degeneration.
- Basic research