Dr Melissa Formosa and her team present their study on ‘Variants in STAT4 and TMEM151B identified as potential causal factors in Early-Onset Familial Osteoporosis’ at the 49th European Calcified Tissue Society (ECTS) Congress held in Helsinki, Finland between the 7 and 10 May 2022.
Their findings describe 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. You can read more on this study here.
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.
