Three UCL researchers supported by our biomedical research centre and biomedical research unit have been awarded National Institute for Health Research (NIHR) funding to study groups of patients with rare neuromuscular and neurodegenerative diseases, with the aim of developing new treatments for patients.
The researchers each received an NIHR rare disease fellowship to develop what are called stratified cohorts of patients for deep phenotyping. This involves building up groups of patients and carefully looking at and recording the details of how their disease manifests itself and information such as imaging results and blood tests.
These latest fellowships will enable researchers to look at the characteristics of rare diseases such as channelopathies, inclusion body myositis (IBM) and frontotemporal dementia (FTD) so that new therapies can be developed for testing.
A rare disease is one that affects fewer than 5 in 10,000 people. However, in the UK, an estimated 6% (approximately 3.5 million) of the population will be affected by a rare disease at some point. Up until recently, rare diseases have been under-diagnosed and untreated.
Dr Emma Matthews from the MRC Neuromuscular Centre at Queens Square will focus on rare neuromuscular diseases called channelopathies which occur in the brain, nerves and muscles. She explained: “They are called as such because these tissues are electrically excitable and there are ion channels in the membrane of these tissues that control that excitability.”
Dr Pedro Machado, also from the MR CNeuromuscular Centre, will look at inclusion body myositis IBM]. He said: “We are planning to deep phenotype patients at the clinical level, MRI level, serological level, and histopathological level, in order to try to find predictors of disease progression, to be able to establish groups of patients where we can tell the rate of progression, and prognostic factors for treatment.”
Dr Jonathan Rohrer, from the Dementia Research Centre, at Queens Square will investigate FTD. He said: “Clinically we think of FTD as three main diseases: a behavioural variant, and two language variants. Whilst, pathologically, we know it can be caused by the deposition of a number of abnormal proteins in brain cells called tau. Genetic FTD is therefore even rarer: 20% of 1-2 in 10,000.”
He continued: “We need to have both a large enough cohort of people who are well phenotyped and, to have developed the right biomarkers. In terms of biomarkers for FTD, there are two key issues: one, onset (when to treat?) and two, progression (how to track the disease?).”
