ALS group support
Our research group has a strong commitment to research on Amyotrophic Lateral sclerosis (ALS) through molecular genetics, expression profiling in spinal cord and through the use of experimental models to develop new therapeutic approaches. Our major goal has been to identify disease genes associated with adult onset dominantly inherited FALS cases.
In order to do this, we have established a resource of ~ 200 families for whom we provide support in the form of a Newsletter, website, telephone “hot line” and Advisory clinic. We have now completed a genome screen in our most extensive UK families which lack SOD1 mutations and multiple loci have been indicated in family subsets on chromosome 16 and 9, which show significant association with disease. We have now formed an international collaboration to sequence all genes within these putative FALS loci.
Once new disease genes have been identified we hope to determine the molecular mechanisms of pathogenesis and further investigate therapeutic approaches. Our group has also made key contributions to understanding the role of the small heat shock protein, HSP27 (HSPB1) in the mammalian brain and spinal cord, from the characterisation of the expression of HSPs in animal models of stroke and seizures to the demonstration for the first time in vivo that HSP27 can reduce seizures, attenuate caspase 3 induction and protect against hippocampal cell death. Furthermore, we showed that HSP27 rescues motor neurones and preserves muscle function following nerve injury. Cardiac and cerebral protection were also demonstrated in HSP27 transgenic animals and a number of other collaborations are also in progress.