A team of researchers from the Department of Applied Biomedical Sciences (Faculty of Health Sciences) and Department of Medicine (Faculty of Medicine and Surgery) at University of Malta consisting of Ms Marichela Schembri, Mr Donald Friggieri, Professor Josanne Vassallo, Professor Angela Xuereb-Anastasi and Dr Melissa Marie Formosa presented a poster at the 49th European Calcified Tissue Society (ECTS) Congress held in Helsinki, Finland between the 7 and 10 May 2022. More information about this Congress 2022 is available .
The poster entitled ‘Variants in STAT4 and TMEM151B identified as potential causal factors in Early-Onset Familial Osteoporosis’ describes two novel genetic variants identified in a 3-generation Maltese pedigree using whole genome sequencing. The variants are absent in all population-based allele frequency databases and in the case-control collection of 1,045 unrelated Maltese postmenopausal women from the Malta Osteoporotic Fracture Study (MOFS). This is the first study to link the identified genes and genetic variants to osteoporosis, providing an opportunity for further investigation in larger collections, and functional translation in cells and model systems.
The study has received financial support in the form of an Endeavour Scholarship (Ms Marichela Schembri who is currently pursuing a Master’s degree in Applied Biomedical Science at the Faculty of Health Sciences), the Research Excellence Programme GeOM (REP-2020-011), funding from the Research, Innovation and Development Trust (RIDT) of the University of Malta together with the Malta Community Chest Fund, and an ITC Conference Grant from the GEMSTONE Cost Action (CA18139; more information is available ).
This family study, together with others, forms part of the ongoing research project MetaBone, a second Research Excellence Programme (REP-2021-012) that seeks to undertake a multi-omics approach to investigate osteoporosis. More information can be found online.
Project GeOM and MetaBone were financed by the Malta Council for Science & Technology, for and on behalf of the Foundation for Science and Technology, through the Research Excellence Programme.
