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Inaugural lecture: Research into accelerating rare disease research through registries

On 3 April, Professor Syed Faisal Ahmed from the Leiden University Medical Center (LUMC) will give his inaugural lecture ‘Strength in Numbers’. He will emphasise the benefit of registries to rare disease research.

Ahmed was appointed professor of Endocrine Registries in spring 2019. His research focuses on improving the care for people with rare hormonal conditions through interdisciplinary partnerships and infrastructures that facilitate global translational research. ‘Achieving excellence in this field requires scientists and clinicians to work across geographical boundaries as a team with a common vision.’

Faisal Ahmed

Strength in numbers

Soon after initiating his studies on pseudohypoparathyroidism – a condition reported to affect about 1 in 100,000 individuals – Ahmed realised that a lack of collaboration and complementarity amongst knowledge centres was hindering rare disease research. ‘During my research in the early 1990s, I learned several important lessons. For example, the widespread distribution of people with rare conditions over a large geographical area, the power of data collection activities even for small populations and the strength in numbers if this information is pooled and standardised.’ These recurring themes formed the basis of his subsequent scientific endeavours.

Establishing data infrastructures

As it became clearer that collecting and comparing standardised data would improve the community’s understanding and management of a wide range of health conditions, Ahmed began to focus on developing a clinical and research network for rare disorders of sex development (DSD). He established the Scottish DSD Network in 2004. ‘As these are rare conditions, such undertakings become a lot more informative when countries pool their resources.’ Then in 2008 the EuroDSD project was launched, with funding from the European Commission. ‘We soon realised the gap identified extended beyond the borders of Europe, so the EuroDSD database became the I-DSD Registry. Now, the registry has over 120 centres located in 40-50 countries around the globe and sustains itself through a number of different activities, including research grants, symposia and investigator feeds.’

Future ambitions

As home to 37 National Expertise Centre for Rare Diseases, the LUMC also recognises that patient registries are key instruments for furthering research and improving patient care. This has made the LUMC critical to the activities of European reference networks such as Endo-ERN and ERN-BOND.

‘We have now embarked on a journey that is appreciated by patients, clinicians and institutions.’ Nevertheless, these platforms will require constant evaluation to be sustained over longer periods. ‘There is still much work to be done in this field and I look forward to making the rare disease registry programme a greater success,’ says Ahmed.  

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