Professor Syed Faisal Ahmed delivers inaugural lecture on accelerating rare disease research through registries

Ahmed was appointed professor of Endocrine Registries in spring 2019. His research concerns improving the care of people with rare hormonal conditions through interdisciplinary partnerships and development of infrastructures that facilitate global translational research. He notes: “Achieving excellence in this field requires scientists and clinicians to work across geographical boundaries as a team with a common vision.”

Strength in numbers

Soon after initiating his studies on pseudohypoparathyroidism – a condition reported to affect about 1 in 100,000 individuals – Ahmed realized that lack of collaboration and complementarity amongst knowledge centres had a hindering effect on rare disease research. “As this work was being accomplished in the early 90s, I learned several other important lessons. For example, the wide-spread 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 was pooled and standardized.” These recurring themes became the basis of the Professor’s subsequent scientific endeavours.  

Establishing data infrastructures

As the value of collecting and comparing standardized data to improve the community’s understanding and management of a wide range of health conditions became clearer, Ahmed focused on developing a clinical and research network for rare disorders of sex development (DSD). He established the Scottish DSD Network in 2004. “However, given these are rare conditions, such undertakings become a lot more informative when countries pool their resources together.” Then in 2008  the EuroDSD project was launched, funded by the European Commission. “We soon realized 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 a home to 37 National Expertise Centre for Rare Diseases, the LUMC also recognizes that patient registries constitute key instruments to further research and improve patient care. This has allowed LUMC to become critical to the activities of European reference networks such as Endo-ERN and ERN-BOND.

“We have now embarked on a journey that is being 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 overseeing the rare disease registry programme to further success,” says Ahmed.