Article 10BE2 First genome project diagnoses give hope to two four-year-olds

First genome project diagnoses give hope to two four-year-olds

by
Ian Sample Science editor
from on (#10BE2)

Pair are first to benefit from the 100,000 Genomes Project, launched in 2014 to improve diagnosis and treatment of rare genetic disorders and cancer

Doctors feared something was wrong the moment Georgia Walburn-Green was born. Her head was slightly larger than normal, but tests offered no explanation. The hospital's advice to her parents was not encouraging. "We were just told to go home and see if our baby developed abnormally," said her mother, Amanda.

Now aged four, it is clear that Georgia is not developing properly. As a baby, she struggled to hold her head up, look around the room, and sit upright. She has a kidney condition, growths in her eyes, and a disorder that means she may never speak. On top of this, despite dozens of invasive tests and scans, doctors could not diagnose her condition.

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