Research activity and capability in the European reference network MetabERN

Area of Science:

• Medical Genetics
• Metabolic Diseases Research
• European Healthcare Networks

Background:

• MetabERN, a European Reference Network, unites 69 centers across 18 countries focused on Hereditary Metabolic Diseases (HMD).
• Established under EU directive 2011/24/EU, MetabERN aims to enhance research and professional training in HMD care.
• A 2017 survey documented research activities and potential within the network, with responses from 52 centers in 16 countries.

Purpose of the Study:

• To provide an overview of research activities and potential within the MetabERN network.
• To assess the current state of research and identify priorities for future actions in HMD.
• To understand the multidisciplinary research landscape and identify areas for improvement.

Main Methods:

• A survey conducted in December 2017 targeting clinical, university, and laboratory teams within MetabERN.
• Separate questionnaires distributed to different professional teams to capture diverse research perspectives.
• Descriptive analysis of collected data from 52 participating centers across 16 European countries.

Main Results:

• Respondents expressed high motivation and satisfaction with research conditions, indicating competitive and excellent research activities.
• Primary research areas include genetics, pathophysiology, and diagnosis of HMD; limited activity noted in human and social sciences.
• High participation in patient registries was reported, contrasting with low awareness and utilization of medical research infrastructures like biobanks.

Conclusions:

• The MetabERN network demonstrates robust research capacities and activities in HMD, offering a comprehensive European overview.
• Limited engagement in human and social sciences suggests a need to enhance multidisciplinary approaches for patient empowerment and advocacy collaboration.
• Future actions should focus on strengthening research in patient-centered outcomes and fostering broader interdisciplinary engagement.