Spotlight YOPD & World Parkinsons Coalition Survey
How do we better understand YOPD?. Now the fastest-growing neurological condition and considered the most complex, a new creative approach is required to greater understand Parkinson’s in all its forms. Collaboration, specifically patient insight and experience and scientist knowledge with a modern, holistic and open-minded approach will bring hope and progress.
Generally considered a condition of the elderly, this majority demographic struggling with slowness, stiffness, and fatigue – symptomatic of both
Parkinson’s and advancing years – is largely resigned to their diagnosis. There is, however, an untapped patient community of YOPD – who have the greater energy and motivation required.
Why should we focus on YOPD?
- The younger the patient the more likely there is to be a genetic PD link. Still, an evolving science, several genetic types of YOPD have already been identified. Many more will be discovered in the next few years.
- YOPD may have 30, 40 years or more living with the condition – presenting an opportunity for long-term research.
- The YOPD community is driven, interested, and likely to be a focused and powerful force for progress.
- They are a diverse yet easily identified group (dx under 50) that can be ring-fenced for research purposes. YOPD also has a greater media appeal by virtue of its relative novelty; they make for a good story.
- Younger research patients are more likely to have living parents – who in turn may be willing to provide their own genetic information. Potentially some YOPD may have four generations willing to contribute information.
Why this gene-us approach; this rare opportunity
We are not so shortsighted as to think that genetics will provide the answer to every YOPD – but genetics does provide fact; code we are well on our way to cracking. That genetic information forms a peg in the ground – something concrete that we can workaround. We may be focusing on young-onset PD but the information and implications may benefit not just YOPD, but potentially all Parkinson’s and many neurological conditions beyond PD.
With the exception of a few outlier scientists and researchers, studies on YOPD have – to date – been limited. A patient group often sidelined, misdiagnosed, or misunderstood, Europe has taken the lead and recognises YOPD as having rare disease status – listing some genetic types under this heading on Orphanet. While some charities across the globe recognise YOPD, outside of Europe there seems to be no medical or official recognition of YOPD as having rare disease status. Such recognition could be advantageous from a research perspective.*
Some advocates are concerned that rare disease status sidelines the condition and those diagnosed. Contrary to this, we believe it allows YOPD to be represented on two fronts; the wider PD community and the rare disease world. We have global YOPD patient engagement through the World Parkinson
Coalition and with their endorsement.
We are asking select researchers and organisations across the globe to work with us in genetically testing YOPD and sharing anonymised whole genome sequenced information. To date, 97 percent of all genome sequencing is of white European origin. This much-needed global approach will provide some vital new information, especially across the differing ethnicities. In an increasingly transient world with a mixed-race population, this information will have
What is there to learn beyond the known knowns and unknown genomes?
While this is the whole genome, it’s not the whole story, and anyway that we are able to identify common factors within YOPD the better. Running in tandem with this genomics project – again endorsed by the WPC – this YOPD working group is producing a YOPD global survey. Created by patients with YOPD, it will gather information on a broad spectrum, much of which has until now been anecdotal and confined to online forums.
The most thorough survey of its type, with YOPD as the subject matter, there is the potential for participants to revisit and update perhaps five years later into their disease progression. By virtue of participants having been diagnosed under the age of 50, we should in most cases be able to get a longer-term view of disease progression. More importantly, we hope to gather insight into common symptoms, side effects to medication, and perhaps factors so far little considered by the science community.
Above and beyond – where else can we look?
Latest thinking believes that Parkinson is the result of a combination of factors:
- and some kind of trigger factor (perhaps emotional or physical trauma).
Survey results can be used to group potential types of YOPD for genetic analysis. This will entail drilling down to discover patterns based on common symptoms and histories. It may also be valuable in shedding light on environmental factors such as working in industry or proximity to crop spraying. Similarly it may provide clues as to what triggers YOPD.
The survey will also provide affectively a database and an indication on breakdown of ages, genders, presenting symptoms, available care et cetera. Undoubtedly developing countries may well have very limited treatment pathways. The survey however will inform and help provide full understanding of their situation with an ultimate goal of best-practice care for all. It will, at the very least, show the scale and diversity of YOPD globally. It will hopefully clarify influencing factors from childhood diseases to stress implications to environmental factors.
How long will this take? What will it achieve?
This is an extensive amount of work – involving a large team of mainly patients with YOPD. Hopefully, by WPC Barcelona in 2023, we will have gathered a more detailed picture of YOPD – with more to be learned at the event. We see this as an ongoing ‘living’ project – protecting patient privacy while openly sharing data gathered on the condition.
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