Fellowships were recently awarded to researchers supported by the BRC, the National Institute for Health Research and the NIHR Queen's Square Dementia Biomedical Research Unit.   

Ten awards were granted nationally from the Medical Research Council, with four going to Dr Pietro Fratta, Dr Jonathan Rohrer, Dr Ed Wild and Dr Gavin Winston, all from the UCL Institute of Neurology.  

Dr Fratta’s fellowship will focus on amyotrophic lateral sclerosis (ALS), a rapidly progressive neurological disease that attacks the nerve cells. Dr Fratta will explore RNA metabolism in ALS, testing whether RNA molecules, which allow the information contained in the DNA to be carried out in cells, are crucial for motor neurons to survive and what role this plays in motor neuron disease.

In the past five years a series of genetic discoveries have made it apparent that a number of crucial genes are involved in various steps of RNA metabolism.

I will start with understanding what types of RNA are in the axons of motor neurons. Once I’ve characterised this, I will attempt to understand how the RNA in ALS axons is different to healthy axons. I want to test whether alterations in the transport and distribution of RNA in axons is important in ALS – we already know that RNA transport alterations are present in numerous neurodegenerative disorders, but the role of RNA still needs to be addressed. Dr Fratta, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology

Dr Rohrer will use his fellowship to identify new biomarkers in frontotemporal dementia (FTD), the second most common form of young-onset dementia after Alzheimer’s disease. Dr Rohrer will look at MRI imaging, PET imaging, cerebrospinal fluid and serum markers. Dr Rohrer will measure when they first become abnormal and how they change over time to know when the best time is to give disease-modifying therapy
Dr Rohrer and his team wish to see how early change can be seen, particularly in FTD groups who have a genetic mutation from birth but only develop symptoms in their fifties or sixties.

Unlike Alzheimer’s disease, where there are pathological protein aggregations and CSF markers, there aren’t really any good biomarkers of the underlying pathology in FTD. We want to know when the best time is to give disease-modifying therapy and how we should monitor whether therapies are working. If we see changes in our youngest subjects in their twenties who may be 30 or 40 years away from developing symptoms possibly the best time to treat people is at a very young age. Dr Rohrer, Department of Neurodegenerative Diseases, UCL Institute of Neurology

Dr Wild aims to develop further our understanding of the neuropathobiology of Huntingtons Disease by studying patients’ cerebrospinal fluid and how the brain responds to things that go wrong.

I am studying how a gene becomes a disease: the gene is expressed in the protein and the protein messes up molecular things inside the cell causing cells to malfunction and die. Collecting CSF gives us a unique chance to study chemical changes in the nervous system of patients by measuring mutant Huntingtin levels. Dr Ed Wild, Department of Neurodegenerative Diseases, UCL Institute of Neurology

Dr Winston’s research focuses on pre-surgical evaluation in refractory focal epilepsy, a type of epilepsy that means medicines don't work well, or at all, to control seizures. At the moment, a range of different techniques are used to study refractory focal epilepsy such as imaging (MRI, PET and Single-Photon Emission Computed Tomography SPECT, EEG, and neuropsychology. Currently, these techniques are expensive and time consuming. In addition, they do not always find where seizures are coming from. Dr Winston will use a combination of these techniques to identify where seizures are coming from.

We can more rapidly, and cost effectively, use imaging to identify abnormalities in patients in who we can’t identify abnormalities with current techniques. This will hopefully allow a larger number of patients to have surgery.Dr Winston, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology
I would like to congratulate Dr Pietro Fratta, Dr Jonathan Rohrer, Dr Ed Wild and Dr Gavin Winston on winning these highly competitive national MRC awards. It is quite remarkable that four out of 10 national awards have come to researchers at the Institute of Neurology. These very promising researchers are all pursuing important translational research questions that are likely to have impact for patients. These projects align strongly with the mission of the Institute of Neurology to translate world class science into new diagnostics and treatments for patients. Professor Michael Hanna, Director of the UCL Institute of Neurology

Further information: