Health New genetic test reveals cause of rare disease

New genetic test reveals cause of rare disease

Researchers from The University of Queensland have discovered the genetic cause of an eleven-year-old Brisbane boy’s rare developmental condition, giving his family hope for the development of future treatments.

Seth De Rooy suffers from Temple-Baraitser syndrome (TBS), and is 1 of only 7 people in the world currently diagnosed. TBS causes intellectual disability, low muscle tone, severe epilepsy and missing nails on thumbs and big toes.

Dr Cas Simon from The University of Queensland and Dr Michael Gabbett and Dr Julie McGaughran from Genetic Health Queensland led a team of researchers to create a genetic profile for six of the patients. They then compared the genetic differences between patients and their parents, pinpointing the damaged mutations in the KCHN1 gene.

Dr Michael Gabbett said the team hopes the findings can be used as a model for diagnosing and treating rare diseases like TBS.

“Rare diseases affect more than 1.2 million Australians, and around 80 per cent of rare diseases are caused by mutations in our genes,” he said.

[img source] University of Queensland