Dr Johnathan Cooper-Knock

Genetic causes of motor neuron disease (MND, also called amyotrophic lateral sclerosis or ALS). In particular the discovery of novel genetic mutations to facilitate the design of cell and animal models for identification of new potential therapeutic targets.

Current projects

Amyotrophic lateral sclerosis (ALS, also called motor neuron disease) is a fatal and aggressive disease without an effective treatment. In recent times the discovery of genetic causes of disease has highlighted certain biological functions, which has allowed development of novel therapeutic approaches. A number of these therapies are effective in animal models and are on their way to the clinic.

The drawback with these approaches to date is that they are only relevant to a small proportion of ALS patients who have disease caused by a particular genetic mutation. This should not be the case - studies have suggested that as much as 70% of ALS may be caused by one or more genetic variations acting in concert, even in sporadic ALS patients who do not have a family history of disease.

One of the reasons for missing heritability is that the majority of the genome, which does not directly encode protein sequence, is relatively poorly studied.

Dr Cooper-Knock is working to uncover the basis for that missing heritability.

To do so, he is combining established and cutting-edge bioinformatics techniques together with the largest ever disease-specific whole genome sequencing effort (22000 genomes) to identify non-coding changes which cause and modify ALS.

This work builds on Dr Cooper-Knock’s PhD work - focusing on C9orf72-ALS - and his recent discovery of novel disease-causing mutations within RNA-binding proteins (Cooper-Knock et al 2017).

Dr Cooper-Knock is a Clinical Lecturer, funded by NIHR. He has also received grants from the Academy of Medical Sciences, the Medical Research Council (MRC), and the Motor Neurone Disease Association (MNDA).