News update...

MORE RESEARCH DATA REQUIRED FOR DEVELOPMENT OF EARLY SCREENING TOOL...

‍We continue to seek families with a child between 4 and 10 years of age with Type 1 Stickler Syndrome?

If the child doesn't have another connective tissue or genetic diagnosis, or a previous diagnosis of Perthes disease, just 5 minutes of your time could really help with this important research to help get earlier pathways to diagnosis.

The Addenbrooke's CUH research team working with Dr Robert Smyth is looking into developing a screening tool to help identify young patients with a higher risk of retinal detachment and potential blindness. But sufficient data is always a critical part of any research so we need more people to come forward and help with this initiative.

What does it involve? Just send an email to contact@stickler.org.uk and we'll send you a Participation Info sheet and a link to the online survey. It's that simple and straightforward and all fully GDPR compliant.

Here's a bit of background with Dr Robert Smyth's presentation from the 2024 Conference.

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RESULTS OF THE RECENT SURVEY...

A massive "Thank you" to everyone who took part in the recent Stickler Syndrome UK survey on prioritising the charity's objectives. There was a great response and lots a really positive suggestions and feedback to digest.

The full details of the survey results appeared in the July 2025 edition of the charity's 'Briefs' e-Newsletter, so if you haven't already subscribed to 'Briefs' (on this page) keep a close watch on future editions and the social media channels as we start to turn those results into actions.

WHAT WERE THE TOP THREE SELECTED PRIORITIES?...

1. Raising awareness among the medical professionals and allied healthcare professionals across the UK to aid earliest diagnosis

2. Assisting with continued research across all symptoms

3. Wellbeing and mental health support for all ages ‍‍

WE'RE NEARLY THERE, JUST A FEW MORE PARTICIPANTS NEEDED FOR THE RESEARCH...

Thank you to everyone who has come forward to help, we continue to seek families with a child between 4 and 10 years of age with Type 1 Stickler Syndrome? This is very close to getting the data needed for important research into development of an early screening tool for Stickler Syndrome.

If your child is in this 4-10 age group and hasn't had another connective tissue or genetic diagnosis, or a previous diagnosis of Perthes disease, just 5 minutes of your time could really help with getting earlier pathways to diagnosis for so many more children.

The Addenbrooke's CUH research team working with Dr Robert Smyth is looking into developing a screening tool to help identify young patients with a higher risk of retinal detachment and potential blindness. This is the Stickler Syndrome community's opportunity to participate in helping to provide essential research data.

‍What does it involve? Just send an email to contact@stickler.org.uk and the charity will send you a Participation Info sheet and a link to the online survey. It's that simple and straightforward and all fully GDPR compliant.

Here's a bit of background with Dr Robert Smyth's presentation from the 2024 Conference.

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‍RESULTS OF THE RECENT SURVEY...

‍A massive "Thank you" to everyone who took part in the recent Stickler Syndrome UK survey on prioritising the charity's objectives. There was a great response and lots a really positive suggestions and feedback to digest.

The full details of the survey results appeared in the July 2025 edition of the charity's 'Briefs' e-Newsletter, so if you haven't already subscribed to 'Briefs' (on this page) keep a close watch on future editions and the social media channels as we start to turn those results into actions.

WHAT WERE THE TOP THREE SELECTED PRIORITIES?...

1. Raising awareness among the medical professionals and allied healthcare professionals across the UK to aid earliest diagnosis

2. Assisting with continued research across all symptoms

3. Wellbeing and mental health support for all ages

Of course this doesn't mean the charity won't be working on anything else, it just means that we'll be working hard to keep a focus on the ones that could make the biggest difference to us all.

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FOLLOW, FOLLOW, FOLLOW...

To date we have 833 followers on the charity's Facebook page and 53 subscribers to the charity's YouTube channel. A massive "Thank you" to all our followers and subscribers.

Every additional follower/subscriber that we can get will greatly improve our chances of securing sponsorship and funding for important projects, building awareness, aiding research, and being able to provide support across the UK and EIRE.

So we're reaching out for you to not only follow and subscribe where you can, but also to get family members and friends to help us get these numbers as high as we can.

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