Faculty / Content approved by
Dr. Fleur van Dijk, UK
Professor David Sillence, Australia
Speaker: Prof. David Sillence
Duration: 27 minutes
Summary:
The video discusses the historical and evolving classification of osteogenesis imperfecta (OI), emphasizing the necessity for updated nosology in quality of life studies. It highlights the contributions of various researchers, and the development of an OI nosology that incorporates both phenotypic descriptions and genetic causes for. The presentation reviews significant findings from epidemiologic studies, illustrating the clinical and genetic variability within OI, as well as the importance of recognizing conditions with overlapping clinical features. Emphasis is placed on the role of genomic research in identifying multiple genetic causes that influence the severity and clinical features of OI. The webinar concludes by acknowledging collaborative efforts and future research directions aimed at improving patient outcomes and further understanding of clinical and genetic characteristics of OI.
Key Take Aways:
1. OI classification is evolving to include both clinical and genetic factors.
2. Research shows wide variability in OI’s presentation and causes.
3. Collaboration is key to improving diagnosis, treatment, and outcomes for Quality of Life.