Description

This study day will provide delegates with the fundamental principles of genetic and metabolic medicine relevant to a paediatric career, with an appreciation for developments in the field and their associated practical applications.topics include: •Know about current best practice to clinical dysmorphology•Demonstrate techniques in genetic testing, including whole genome sequencing.•Know about the prenatal testing of genetic disorders•Understanding the genetic counselling with case study based teaching on ethics and inheritance patterns•Awareness of the basic principles of inherited metabolic disease and modes of presentation•Structure an approach to the diagnosis and management of hyperammonaemia and hypoglycaemia•Understand when and how to consider investigating inherited metabolic disease in the child with neuro-developmental delay•These principles will be reinforced with a Workshop based on above metabolic topics