Human disease models

Batten Disease

The Neuronal Ceroid Lipofuscinoses (NCLs or Batten disease) are a group of fatal degenerative childhood conditions caused by one of many different monogenetic alterations, all of which affect lysosome function and are inevitably fatal. Although these genes are ubiquitously expressed, at the early stages of disease the consequences of such mutations appear predominantly to affect the stability of neurons, particularly synaptic compartments and glial cell populations. The resulting neuropathological alterations are becoming well characterised in existing mouse models of these disorders. However, as with most neurodegenerative conditions there is a gap between common mouse based therapeutic identification and effective translation through to the human population. As a result the generation of a large animal model of Battens disease, as an interim physiologically relevant model system, is becoming a desirable factor bridging such gaps for preclinical testing.

Collaborating Group: Tom Wishart

Cystic fibrosis (CF)

CF is a genetic condition affecting more than 10,800 people in the UK. It has estimated that 1 in every 2,500 babies born in the UK has cystic fibrosis. A number of treatments are available to help reduce the problems caused by the condition, but there is currently no cure and average life expectancy is reduced – only approximately half of cystic fibrosis sufferers will reach the age of 40. There is considerable research effort in the UK to identify treatments for this disease. CF is a disease primarily affecting the lungs and mouse models do not manifest lung pathology. The generation of a sheep model of CF exhibiting the lung pathology associated with the human disease will allow the identification and testing of potential therapeutics.

Collaborating Groups: Gerry McLachlan, UK CFTGC