Upper Sixth Biologists were treated to a presentation on the symptoms, inheritance and the challenges of living with the genetic disease DiGeorge Syndrome from Lyn Coote this week.
Lyn has deep experience of the disorder, having had a daughter and a grandchild with DiGeorge. Her talk took pupils through the clinical presentation and basis of inheritance before giving a case study into her experience of living with, and caring for, her relatives.
It was a powerful account and gave pupils a real sense of the incredible impact the deletion of a small part of chromosome can have on an individual’s development. The Q&A session touched on the art of diagnosing diseases through dysmorphology, the importance of early diagnosis, and the personal impact of living with those who have been dealt a challenging genetic hand.
