The Brain Research UK Miriam Marks Research Fellowship scheme was established in 2020 in partnership with UCL Queen Square Institute of Neurology. The scheme is funded by the Miriam Marks Endowment Fund, which was established by the family of Mrs Miriam Marks in 1971 to support research into brain degeneration.
This award to Dr Jonathan Rohrer was one of two Fellowships awarded in 2020, and is supporting his research into frontotemporal dementia (FTD), the most common form of dementia in the under 60s.
Jonathan Rohrer is an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery in London, and a Principal Research Fellow at the Dementia Research Centre (DRC), part of the Institute of Neurology.
His interest in brain research was sparked during his undergraduate degree in Natural Sciences at the University of Cambridge. Studying neuroscience as part of this, he attended lectures that began with people affected by different types of brain injury talking about their condition, followed by a lecture about that illness. Fascinated by this, he applied to do graduate medicine, with the aim of becoming a neurologist.
As a junior doctor he became interested in FTD, and how changes to the brain can lead to the loss of self that characterises the disease. He has pursued this interest through his career - in both the clinic and the lab - determined to find out more about this disease, and offer hope to those affected.
Having worked closely with families with genetic FTD for the last fifteen years, patients are firmly at the centre of his research and he is dedicated to finding effective treatments.
The DRC provides an ideal environment to pursue this work – with access to large, well-characterised patient cohorts and opportunities for collaboration with those working in overlapping areas. Dr Rohrer also collaborates extensively with groups from other centres – both nationally and internationally – and leads an international, multi-centre genetic FTD study (www.genfi.org).
Besides providing care and support to the patients he sees in clinic, he also runs a website (www.ftdtalk.org) dedicated to providing research updates to the FTD community, and leads support groups for carers and at-risk family members.
FTD is the most common form of dementia in the under 60s, with an average age of onset between 50 and 60 years.
Caused by damage to cells in areas of the brain called the frontal and temporal lobes, the front and side parts of the brain, the initial symptoms of FTD are changes to personality and behaviour and/or difficulties with language. This is in contrast to the early symptoms of older-onset forms of dementia, which often manifest as problems with memory.
The only known risk factors for FTD are genetic. Around one third of people with FTD have inherited an abnormal gene from a parent. In families with this genetic form of the disease, children have a 50% chance of inheriting the gene from the affected parent and thus developing the disease themselves.
There are currently no treatments that can delay the onset - or prevent the progression – of FTD in those affected.
The team at Queen Square works with a cohort of around 100 families with genetic FTD. They have been followed for many years, and Dr Rohrer himself has been seeing them for more than 15 years.
These families offer researchers a unique opportunity to understand the earliest stages of the disease process, enabling detailed analysis of individuals who are known to be at high risk of developing genetic FTD but are not yet symptomatic.
In a programme of research centred on these families, Dr Rohrer and colleagues are working to properly understand the biological timeline of FTD. They want to establish when the biological changes begin, how far in advance of the onset of symptoms there are detectable changes, and the implications for treatment. They need to establish whether treatment will work when these changes have already happened, or whether treatment needs to be started much earlier, to prevent these changes.
It is only by understanding the complexities of the disease process that we can understand how to treat FTD effectively. It is thought that the failure of many promising drugs in Alzheimer's trials could be the result of the drugs simply being given too late in the disease process, after crucial biological changes have already occurred.
The work being carried out by Dr Rohrer and team will help ensure that planned trials for FTD will be done in the right way, that drugs are given at the right time in order to maximise the chance of success.
The young age of those typically affected by FTD makes it an especially challenging diagnosis. Its effects, particularly on people of working age, present a very different set of challenges to later onset dementias. People under the age of 65 are typically still working, with financial responsibilities, and often have children who still rely on them. They need different services and support.
There is currently no cure for FTD, and the progression of the disease cannot be slowed. A number of trials are now in the pipeline and - to maximise their chance of success - it is crucial that they take into account the underlying biology and developmental processes of FTD. The work being carried out by Dr Rohrer and team is enabling this.
“We are at a turning point in the research. We are at a point now where I can say to the families that come to our clinic every year that there are clinical trials on the way. I don’t know whether these treatments will be curative but they’re potentially curative, potentially things that will make a difference. That makes a big difference to families, to know that even if their own disease may not be cured, their children’s might. There is lots to be hopeful for.”
Dr Jonathan Rohrer
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