Parents crack the genetic code of their child's condition to find personalised treatment 

When Niamh McDonagh was born with an extremely rare genetic variation, her parents were told little could be done for her. They decided to use their skills as biologists to recreate the specific mutation and understand it better. Their work is based on cutting-edge research helping to develop targeted medicines

Pic: iStock

When University of Galway academic Katarzyna Whysall gave birth to her daughter Niamh in July 2020, she knew almost instantly that something was amiss.

“She had seizures within the first two days of her life,” Whysall says.