Dr Alexander Peden ‘Using hsPMCA to analyse cerebrospinal fluid samples from patients with an unconfirmed diagnosis of sporadic CJD to search for possible missed cases of variant CJD’
Prion diseases are rare but devastating neurodegenerative diseases that always result in the death of the patient. Most cases of prion disease occur spontaneously, but some cases are inherited, and some are caused by transmission from other humans or animals. For instance, vCJD in humans was most likely caused by contaminated meat, following an epidemic of BSE in cattle in the 1990s.
Unfortunately, we are a long way from a cure for prion diseases, but an important step towards treatment is to understand the mechanisms of these diseases and to detect and diagnose the subtypes that are known to exist.
The only way to confirm diagnosis is by autopsy examination, and the rate of autopsies has been declining in the UK. However, a very powerful molecular technique called RT-QuIC can be used to analyse cerebrospinal fluid from patients. This is very good at detecting the spontaneous forms of prion disease (sporadic CJD), but it cannot detect other subtypes including vCJD. Fortunately, our lab has developed another molecular technique, called hsPMCA, that can detect vCJD in CSF samples
We want to see if we can use hsPMCA to rule out the possibility of missed vCJD cases, and to see if hsPMCA can be used going forward, to look at CSF samples for patients where we are unsure of the diagnosis. This will reassure us that we are doing everything possible to detect and diagnose all cases and subtypes of prion disease.
Research introduction at 2023 FSM: https://www.youtube.com/watch?v=n4aYwEKi0uI&list=PLOr7SrmKCbiBq5KFO541bCC3N6f8nVHOy&index=4
Dr Edgar Chan ‘Evaluation of single-session ACT to support those living at-risk of Prion disease.’
Living at-risk of prion disease can cause significant psychological burden, regardless of the decision to undergo testing and its results. A small study recently showed that symptoms of anxiety and depression was equally high in at-risk individuals who did not undergo testing, mutation carriers, and noncarriers (Schwartz et al., 2019). This is also reflected in what we have observed in our clinical experience at the NPC. Prolonged psychological difficulties can have a pervasive impact on well-being and quality of life, everyday functioning, work productivity, relationship with others, as well as physical health. There is currently little to no research addressing how to support patients psychologically to cope with living at risk.
This project will be the first to address this concern using a randomised control methodology. If deemed effective, this novel intervention will improve psychological outcomes for those living at risk of prion disease and provide evidence on how to support future patients. Moreover, it may have a broader, systemic impact by teaching those at risk of prion disease more effective coping strategies which can then be passed on generationally. In addition, the single-session group workshop format may prove to be a feasible and cost-effective approach and has the potential to inform practice in a range of other patient groups across NHS services.
Research introduction 2023 FSM: https://www.youtube.com/watch?v=mRYWvYIDXWQ&list=PLOr7SrmKCbiBq5KFO541bCC3N6f8nVHOy&index=5
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