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Andrew Douglas

Senior Clinical Research Fellow in Motor Neuron Disease

Genetics of motor neuron disease

I am a consultant in clinical genetics at the Oxford Centre for Genomic Medicine.  I have a specialist interest in neurogenetics and am studying the genetics of motor neuron disease.

Most cases of motor neuron disease (MND) are not caused by strong genetic factors and only 5-10% of cases are familial.  In familial cases, a genetic mutation can be identified in up to around two thirds of cases.  However, around 10% of all MND cases are found to have mutations affecting known genes linked to the condition, even where there is no wider family history of neurodegenerative disease.

Some people who carry a mutation in a gene linked to MND go on to develop the condition but others do not.  The reason for this variability in disease penetrance remains unknown.  I am studying the disease penetrance of MND in people known to carry MND gene mutations by looking at individual family histories and also by analysing genetic data. 

Through this research, I hope to develop a more accurate model for predicting individualised risk in people with a family history of MND.  This will allow at-risk relatives to make better-informed decisions about their care and may also help identify protective genetic factors which could be turned into novel therapeutic approaches.

Other research interests of mine include: the genetics of neurodegenerative disorders, the genetics of neuromuscular disorders, RNA splicing and oligonucleotide therapeutics.