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.
AVAILABLE PROJECTS
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
SELECTED PUBLICATIONS
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
