On the 16th of October the ECTS held a webinar on ‘Early-Onset Osteoporosis: Genetics, Filtering, and Functional Modelling’ as part of the ‘Rare Bone Disease’ webinar series. The webinar was chaire by Dr Felix Von Brackel and Dr Adalbert Reimann with invited talks from
Prof Melissa M Formosa, from the Centre of Molecular Medicine & Biobanking, University of Malta and Prof Ralf Oheim, from the Insitute of Osteolpgy and Biomenchanics, Hamburg, Germany
Osteoporosis is often referred to as age-related loss of bone mass and structure that increases the risk of fractures, but osteoporosis can also develop in children and young adults. Early-onset osteoporosis (EOOP) in children often becomes evident when children have pathological fractures, or fractures in unusual fractures that may or may not be accompanied with low BMD. It is then important to identify the cause is it secondary (e.g. illness, medication, pregnancy) or whether there is an underlying undiagnosed condition.
In the webinar we learned about genes linked to EOOP (e.g. LRP5), diagnosis criteria, the importance of using corrected age-appropriate BMD, and methods for identifying genetic causes of EOOP. There are different sequencing methods can be used to identify genetic varisnts linked to EOOP. Collecting samples from first-degree relatives can help in analysis and identifying causal variants. Advances have been made with NGS which have imporoved identification of monogenic bone disease, and polygenic risk scores are in development.
Catch up on the webinar here.