First Children Diagnosed in DNA Project
Spot the difference
Scientists at Great Ormond Street Hospital performed a giant game of spot the difference between the entire three billion base pairs which make up each of Georgia, Amanda and Matt’s DNA to find what went wrong.
Just before Christmas, doctors told them the genetic abnormality - in a gene called KDM5b - had been identified.
“That was one of the biggest days of my life, we’ve been searching for this for four years,” Amanda said.
While the knowledge will not change the way Georgia is treated today, it offers hope that there will be a therapy in the future.
And in good news for the Walburn-Green family, Georgia’s mutation arose spontaneously rather than coming from her parents - meaning they will try to add to their family.