Dr Johnathan Cooper-Knock

Neuroscience, School of Medicine and Population Health

NIHR Clinical Lecturer

+44 114 222 2273

Full contact details

Dr Johnathan Cooper-Knock
Neuroscience, School of Medicine and Population Health
Room B24
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
S10 2HQ

Johnathan Cooper-Knock studied medicine at the University of Oxford where he obtained a 1st Class Honours degree in Physiological Sciences and completed a degree in Clinical Medicine graduating in 2006. During his undergraduate studies Johnathan completed a research project under the supervision of Professor Kevin Talbot investigating clinical subtypes of MND.

In 2008 Johnathan was awarded a NIHR Academic Clinical Fellowship in Sheffield under the supervision of Professor Pamela Shaw. He continued research initially as a Peake Start-Up fellow before being awarded a Lady Edith Wolfson Clinical Research Training Fellowship funded by the MNDA/MRC which facilitated the award of a PhD by publication in 2015.

During Johnathan’s PhD he focused on characterisation of a novel genetic variant. More recently he has gained proficiency in genetics and is now leading investigation of the non-coding genome in the largest ever disease-specific whole genome sequencing project which is focused on ALS (https://www.projectmine.com/). In 2017 Johnathan was awarded the European Network for Cure of ALS (ENCALS) Young Investigator Award.

Research interests

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).

Research group
  • 2017- present Tobias Moll ‘Characterisation of a novel genetic variant of amyotrophic lateral sclerosis’.

Research Team

  • Tobias Moll (PhD Student)
  • Ian Fox (MSc Student)
Teaching interests
  • Neurodegenerative disease
Professional activities and memberships
  • Peer review of grant applications for funding bodies including ALS Society of Canada, the Garfield Weston Foundation and the MNDA (UK).
  • Peer review of submitted articles for journals including Acta Neuropathologica, Journal of Neurology, Neurosurgery and Psychiatry and the European Journal of Neurology.
  • Regular contributor to ‘Alzforum’ website (http://www.alzforum.org/) – a resource dedicated to helping researchers accelerate discovery in Alzheimer’s disease and related disorders.
  • Regular platform presentations of research at international meetings including the last five ALS/MND International Symposia in Brussels, Orlando, Dublin, Boston and Milan.


  • 2017 European Network for Cure of ALS (ENCALS) Young Investigator Award
  • 2012 European Network for Cure of ALS (ENCALS) Research Presentation Prize
  • 2012 North of England Neurological Association (NENA) Liversedge Prize for Best Research Presentation