Malta

Malta’s BBMRI-ERIC National Node represents DwarnaBio, the national population genomic biobank initiative led by the University of Malta. The node’s role is to develop a BBMRI-aligned, quality-managed biobanking platform that supports recruitment of a representative cohort, standardised biospecimen processing and storage, secure pseudonymisation and data governance and ethically robust participant engagement through dynamic consent.

The node is progressing national partnerships, including alignment with 1+MG activities, to strengthen interoperability and enable research that improves genomic discovery and clinical interpretation in the Maltese population. More about BBMRI.mt. 

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Areas of expertise

Population genomics and variant interpretation: Building Maltese reference resources to improve rare-variant classification and reduce VUS burden, with linkage to phenotype and longitudinal follow-up.

Biobank operations and quality management: Standardised SOPs for blood processing, aliquoting, traceable sample management and pre-analytical quality control.

ELSI and dynamic consent: participant-centred governance, recontact capability, and ethically robust approaches to data sharing and return of findings.

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Achievements

Strategic sustainability and scale-up: We developed and submitted the University of Malta MALGENPOP grant application to establish a coordinated population genomics research cluster and underpin a fiveyear growth plan for DwarnaBio operations and downstream science. 

National genomics delivery: We completed the first 200 whole-genome sequences within Malta’s 1+MGlinked programme, establishing a tangible national WGS capability and a foundation for Maltese reference data generation.

Public trust and recruitment: We expanded community outreach through targeted engagement and awareness activities to improve genomic literacy, support participation and strengthen the dynamic-consent model that enables long-term recontact and governance.

Achievements linked to calendar year 2025


National Node Director: Dr. Nikolai Pace

✉️ Email: Nikolai.p.pace@um.edu.mt

🔗 Web: https://www.um.edu.mt/cmmb/