Osteoporosis is a complex hereditary bone disorder characterised by low bone mass and strength leading to an increased fracture risk. While osteoporosis is often considered a primary condition, it can also be secondary to other medical conditions such as type 2 diabetes mellitus (T2DM).

A research team from the University of Malta will be investigating the underlying genetic pleiotropy that links osteoporosis and T2DM as part of the DETERMINE (DEcoding The gEnetic Risk eleMents of osteoporosIs aNd diabEtes) project. The project will be undertaken as part of a recently funded Research Excellence Programme (REP-2024-027) financed by Xjenza Malta.

The DETERMINE project is a collaborative effort between Prof. Melissa Formosa from the Department of Applied Biomedical Science at the Faculty of Health Sciences and Centre for Molecular Medicine and Biobanking, Prof. Nikolai Pace from the Department of Anatomy, Faculty of Medicine and Surgery and research support officers Ms Marichela Schembri and Mr Donald Friggieri, who will be applying high-throughput sequencing technology to identify genes and gene variants implicated in both bone health and glucose metabolism.

The resulting genetic findings will be tested in national and international case-control studies of individuals with osteoporosis and diabetes, to determine whether the variants contribute to one or both diseases at the population level. This will provide gainful insight on the shared underlying mechanisms implicated in the pathogenesis of both diseases that can potentially be translated into novel prediction biomarkers and improved treatment options.

Project DETERMINE is financed by Xjenza Malta, for and on behalf of the Foundation for Science and Technology, through the FUSION: R&I Research Excellence Programme