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Welcome to week 2

Dr Catherine Millington-Sanders and Dr Will Evans welcome you to week 2 where you will learn about rare genetic diseases.

Welcome to week 2. This week we are going to explore Genomics in the context of Rare diseases.

This may be for many GPs their principal exposure to Genomics. The work up of a child in their practice with a complex paediatric onset disease., the GP receiving hospital correspondence explaining a range of tests performed by the paediatrician, specialist and geneticist.

Although Rare diseases are by definition rare, with approximately 8000 rare diseases, collectively they are common. They share common management principles and utilise the core primary care skills of care co-ordination and managing complex chronic disease. Most are genetic and many are significant life limiting, multisystemic diseases.

We look forward to hearing from you in the discussions this week.

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Genomic Scenarios in Primary Care

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