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The WORLDSymposium 2017

On 13th February 2017 we arrived in San Diego for the WorldSymposium on lysosomal storage disorders. There’s lots to tell you so keep reading!

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We’ve returned once again to the annual WORLDSymposium! For those of you who don’t know about this event, the ultimate goal is to provide a multidisciplinary place for researchers and clinicians to come together and converse over all things related to lysosomal storage diseases (LSDs). Why? To help the experts better manage and understand the diagnostic process for patients.

With 1,500 delegates, 423 abstract submissions, 350 poster presentations, 75 presentations and 35 exhibit booths, WORLD is the perfect forum to explore how we can improve the journey to diagnosis. It’s therefore, essential that we attended and took part in the open discussion, and given the event’s goal, we wouldn’t miss it for the world.

Let’s start with the definition of lysosomal storage disorders (LSDs)

LSDs are inherited metabolic diseases caused by the absence or deficiency of a particular enzyme, which in turn, causes a build-up of toxic waste in cells. Hunter syndrome, Fabry and Gaucher disease all fall under this category.1

The conference

Taking place at the beginning of the year, this event kick-started the exchange of early research and clinical findings between experts from all over the world.


At this congress, all the experts were in one place, meaning our presence, which reinforces our continued commitment to rare diseases, and support to patients, physicians and scientific communities, was needed. In addition to the medical symposia, a medical booth was created to provide a scientific voice for questions and those curious to learn more about LSDs.

While patients remain at the centre of all our efforts, we’ve observed from our conversations with physicians that they too experience difficulties in understanding, diagnosing and managing these rare diseases, simply because they are rare and symptoms are very diverse, which of course creates challenges.

“At rare disease congresses like WORLD, patients are in every message and at the heart of every advancement. These meetings remain an important platform to present physicians with the disease burden of patients, and this must continue. Furthermore, the challenges and unmet needs of physicians, together with their stories, needs to be further recognised and heard, allowing us to help them, help their patients. Therefore, our approach at the WORLDSymposium 2017 Shire medical booth was to support physicians and address these challenges head-on, using realistic, innovative educational tools. This was our vision.”

Pascal Dowling - MPil, PhD

Shire, Global Medical Communications, Genetic Diseases

Pascal Dowling, MPhil, PhD

We wanted our medical booth to simulate scenarios that most physicians wouldn’t usually come across, so that if they did, they would be able to recognise and subsequently diagnose effectively. And the good news is that this initiative is planned to be expanded and presented at more meetings – exciting stuff!

More on the medical booth

On digital screens, we randomly presented different symptoms of Hunter syndrome, Fabry and Gaucher disease. We wanted to familiarise physicians with the different symptoms and then encourage understanding, discussion and confidence in recognising these symptoms.

We had two virtual patient case studies for each disease in the form of mannequins with overlaid transparent touch screens. This innovative element meant physicians could interact with the symptoms, explore biomarkers and practice diagnosing diseases.

“The idea was to bring physicians one step closer to a virtual diagnostic setting”

Pascal Dowling - MPil, PhD

Shire, Global Medical Communications, Genetic Diseases

Pascal Dowling, MPhil, PhD

These case studies received a lot of attention and interaction, which meant we could better understand the physicians’ thought process, and make a note of their important consideration points when working through a diagnosis. The feedback from the physicians was that the interactivity was extremely helpful when discussing and exploring symptoms, testing and diagnosing. They also told us how it brought to life the many symptoms typical of LSDs and how complex they are in nature. As well as the importance of recognising all these elements to better understand the patient. This is a huge step in the right direction and an encouraging movement for the rare disease community.

We felt WORLD was the perfect place to trial these virtual case studies, and the positive feedback from physicians confirmed that this was an ideal way to discover and learn more about how to understand, appreciate, and diagnose rare diseases in an environment of ongoing scientific exchange.

Looking ahead to next year

To make the most out of the outstanding WORLDSymposium, we start planning six months before. We want to keep you in the loop with our plans so check back soon and sign up to our newsletter so we can keep you posted.

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The idea was to bring physicians one step closer to a virtual diagnostic setting

Pascal Dowling - MPil, PhD

Shire, Global Medical Communications, Genetic Diseases

Pascal Dowling, MPhil, PhD

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