University of South Australia PhD student Alicia Byrne has helped to identify a rare genetic disease in a collaboration with the Centre for Cancer Biology, the University of Adelaide and the Women’s and Children’s Hospital. The disease causes severe neurodegeneration in infants.

Byrne’s research studies DNA sequences to uncover the ‘faulty’ genes to allow screening in future embryos. “I’m using a genomic approach, examining the entire DNA sequence of patients affected by severe, rare inherited disorders to determine the genetic change causing their disease,” Byrne said.

The previously baffling condition sees a healthy child begin to lose muscle tone and motor skills, ultimately losing the capacity to walk and use language. Children with this condition experience epileptic encephalopathy and cycles of serious gastric disruption. The genetic disorder has only been described in three patients worldwide, with two being from the same family in South Australia. The study worked with this family to develop knowledge on the condition. “When we started working with this local family, the disorder the children presented with had never been described,” Byrne said. “We discovered that the children carried genetic changes which meant they were unable to absorb vital B group vitamins, which are essential for normal development and function of the nervous system.”

While the Adelaide family tragically lost one child to this disorder, the identification of the cause has allowed the family’s paediatric neurologist at the Women’s and Children’s Hospital, Dr Nicholas Smith, and colleagues were able to devise a targeted therapy to overcome the problem. “Vitamin replacement therapy has resulted in huge improvements in neuro-cognitive & -motor function,” said Byrne.

Rare diseases are a broad and significant area of genomics research because typical diagnosis methods such as autopsies tend to be ineffective. Genomic research opens up possibilities for identifying these diseases and creating personalised medical treatment. “Our goal is to develop genomic testing so that children can be diagnosed at or before birth and treatments can be delivered as early as possible.”

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