Elizabeth Fisher

Institute of Neurology

Motor neuron degeneration and genes

Our research interests lie in finding the genes and cellular pathways that cause degeneration and death of motor neurons. We are primarily a molecular genetics group and are using a variety of classical and innovative genetics techniques to identify new genes that are either causal for motor neuron disease, or that modify pathways leading to motor neuron cell death. Within the lab currently we have completed a positional cloning project to identify a new motor neuron degeneration gene, and we are following up with studies to determine how this gene mutation ameliorates a second mutation known to cause motor neuron disease in humans (a rather suprising and exciting result). We have two similar projects we would like to pursue and are in an excellent, well funded multidisciplinary environment for carrying out research along the continuum from mutation to phenotype. We believe that this research will help us to understand the relatively common, cruel and intractable diseases that cause motor neuron cell death.

We also have a new project underway, to investigate possible neurodegeneration in a mouse model of Down syndrome.


1) Gene identification and disease analysis to find new mutations that cause locomotor deficits. A good project for people interested in genetics.
2) The cell biology of a new mutation in a transport protein, that ameliorates the effect of a human motor neuron disease mutation.
3) An investigation of APP expression and potential neurodegeneration in a mouse model of Down syndrome.

Further reading: http://www.ucl.ac.uk/ion/articles/archive-2009/Oct7


Kieran, D., Hafezparast, M., Bohnert, S., Dick, J.R.T., Martin, J, Schiavo, G., Fisher, E.M.C., Greensmith, L. (2005)
A mutation in dynein rescues axonal transport defects and extends the lifespan of ALS mice.
J. Cell Biol. 169: 561-567

O Doherty, A., Ruf, S., Mulligan, C., Hildreth, V., Errington, M.L., Cooke, S., Sesay, A., Modino, S., Vanes, L., Hernandez, D., Linehan, J.M., Sharpe, P.T., Brandner, S., Bliss, T.V.P., Henderson, D.J., Nizetic, D., Tybulewicz, V.L.J., Fisher, E.M.C. (2005)
Germline transmission of an almost complete, freely segregating human chromosome 21 in a mouse strain that models aspects of Down syndrome.
Science 309: 2033-2037

Hafezparast, M., Klocke, R., Ruhrberg, C., Marquardt, A., Ahmad-Annuar, A., Bowen, S., Lali, G., Witherden, A.S., Hummerich, H., Nicholson, S., Morgan, P.J., Oozageer, R., Priestley, J.V., Averill, S., King, V.R., Ball, S., Peters, J., Takashi, T., Yamamoto, A., Augustin, M., Korthaus, D., Wattler, S., Wabnitz, P., Dickneite, C., Lampel, S., Boehme, F., Perause, G., Popp, A., Rudelius, M, Schlegel, J, Fuchs, H., Hrabe de Angelis, M., Schiavo, G., Shima, D.T., Russ, A.P., Stumm, G., Martin, J.E., Fisher, E.M.C.  (2003)
Mutations in dynein link motor neuron degeneration to defects in retrograde transport.
Science 300: 808-812

More: https://iris.ucl.ac.uk/research/personal?upi=EMCFI97

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