What should healthcare professionals know about the rapidly evolving field of skeletal dysplasia? How are emerging treatments providing new insight into the prognosis and management of skeletal dysplasia?
There are over 450 different types of skeletal dysplasia, genetic disorders affecting the skeleton, often with overlapping phenotypes. Understanding the molecular causes of these disorders and downstream effects on skeletal elements have paved the way for concise categorization between different types of skeletal dysplasia. This has significantly helped develop effective investigational pathways, an exemplar model in the management of rare diseases.
In this educational webinar, led by Dr Melita Irving, we will see how the combination of clinical and radiographic characterization with genetic testing creates a high diagnostic yield for patients with skeletal dysplasia. Case examples will be presented to review clinical considerations. Emerging opportunities in therapeutics targets will also be discussed.
- Provide clinical insight for the utility of genetic testing for those with a diagnosis of skeletal dysplasia
- Identify the potential benefits of an accurate diagnosis in future management
- Review the diagnostic pathway in assessing patients with skeletal dysplasia effectively
- Introduce the direction of travel in skeletal dysplasia into targeted therapies and novel treatments
Dr Melita Irving, MD(Res), FRCPCH, is a consultant in clinical genetics at Guy’s and St Thomas’ UK National Health Service and the Portland Hospital in London. She is an expert in skeletal dysplasia and has been running a dedicated multidisciplinary clinic, the largest in the UK, for 13 years. She pioneered the diagnostic use of whole exome sequencing in skeletal dysplasia, and is chief investigator on a number of phase 2 and 3 clinical trials of novel therapeutic agents.
The opinions expressed in this webinar are solely those of the presenter and not necessarily those of Blueprint Genetics or its affiliates. Blueprint Genetics does not guarantee the accuracy or reliability of the information provided in this presentation.
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