The 52nd edition of the European Calcified Tissue Society (ECTS) congress took place in Innsbruck, Austria, from 23 to 26 May 2025. Local research being conducted at the Department of Applied Biomedical Science within the Faculty of Health Sciences and the Centre for Molecular Medicine and Biobanking was presented at the conference in the form of two poster presentations showcasing ongoing work aimed at unravelling the genetic underpinnings of osteoporosis.
‘Variants in PDK4, TNR and FN1 genes identified following WGS in a Family with Low Bone Mass and Fractures’. Ms Chanelle Cilia and Prof. Melissa Formosa (together with co-authors from the University of Malta: Ms Francesca Borg Carbott, Mr Donald Friggieri and Prof. Josanne Vassallo) identified three variants in a three-generation Maltese family by testing the phenotypically informative relatives using whole genome sequencing. The study investigates the potential interactions between the encoded proteins and pathways associated with bone physiology. Ms Chanelle Cilia is currently pursuing a PhD degree. She was awarded a scholarship through the Tertiary Education Scholarship scheme (TESS) and a travel grant by the University of Malta’s Research, Innovation and Development Trust (RIDT) to present at the ECTS2025 congress.
Ms Marichela Schembri, Mr Donald Friggieri, Prof. Josanne Vassallo, Prof. Nikolai P Pace and Prof. Melissa Formosa, presented their research on the potential genetic pleiotropy linking osteoporosis and diabetes in Malta. The second poster, titled ‘WGS Identifies IGF1R as a possible pleiotropic gene underlying Osteoporosis and Diabetes in Malta’ describes a novel variant in the IGF1R gene which was identified in a postmenopausal woman affected with both osteoporosis and type 2 diabetes. Subsequently, the variant was found to be monomorphic in the Malta Osteoporotic Fracture Study (MOFS, N=1,300) and absent in population-based allele frequency databases such as gnomAD. Ms Marichela Schembri is also supported by a TESS Scholarship.
The studies received funding through projects GEOM (Research Excellence Programme REP-2020-011), GRIT (TDPLite R&I-2022-007L), and DETERMINE (REP-2024-027) funded by Xjenza Malta, for and on behalf of the Foundation for Science and Technology, and BioGeMT (ID: 101086768, Horizon Europe – ERA Chairs).
For further information about genomic studies of osteoporosis and musculoskeletal diseases being conducted at the UM, kindly contact Prof. Melissa Formosa.
