Date: Tuesday 3rd September 2024
Time: 12.30 – 13.30
Title: Skeletal Dysplasia
Speaker: Dr Meena Balasubramanian, Sheffield Children’s NHS Foundation Trust.
Abstract: Genetic bone disorders comprise >450 unique phenotypes that affect a broad range of connective tissues including cartilage and bone. These disorders are archetypal examples of rare diseases that are chronically debilitating, often life-threatening and for which no treatments are currently available. These present as a continuum of genetic risks that are defined at one end of the spectrum by a large and diverse group of rare monogenic phenotypes (genetic bone disorders) and extending through oligogenic conditions to highly prevalent but genetically complex (polygenic) diseases such as osteoarthritis and osteoporosis. Indeed, many patients with rare bone disorders develop these early in their life compared to normal population.
Genes associated with rare and common skeletal disease are involved in closely overlapping genetic and biological pathways, which clearly highlights their interdependency and the obvious benefit gained from studying genetically tractable rare bone diseases as a tool for dissecting common disease pathways.
Genetic bone disorders are conditions in which diagnosis can be difficult to make for the non-expert; as a consequence there are few evidence-based guidelines for their identification, management and treatment. Diagnosis of a specific bone disease involves several types of investigation such as review of the child’s medical and family history, physical examination and a comprehensive radiological evaluation. Furthermore, important considerations such as temporal changes in phenotypic expression, intra- and inter- familial variability and reduced penetrance can also influence diagnosis. Therefore, deep phenotyping of patients is essential for a better understanding of disease mechanisms, and development of novel diagnostic approaches and personalised targeted treatments.
Molecular approaches play a critical role in establishing correct diagnosis and facilitating specialist clinical management, accurate risk assessment and genetic counselling for family members. This talk will explore genetic heterogeneity of rare bone disorders and genomic approaches to diagnosing these in a clinical setting using Osteogenesis Imperfecta and Hypophosphatasia as exemplars. In addition, I will discuss the latest advances in genomic technologies in the NHS applied to patient pathways to ensure early and prompt diagnosis for GSD.
Location: St Mary’s Hospital, Oxford Road, Manchester.
Cost: Free
Registration: If you would like to attend this lunchtime seminar session, please contact: mrcc@mft.nhs.uk