News & Events May 27, 2019

The Perkins Laboratory for Neurogenetic diseases has made a breakthrough in a lethal muscle disease, which gives affected parents the opportunity of giving birth to a healthy baby.

Prestigious journal, The American Journal of Human Genetics has published the significant findings which stemmed from a Perkins vacation project by Notre Dame University medical student Stephen Pannell.

The genetic research found that babies with the rare lethal condition, Arthrogryposis Multiplex Congenita are paralysed and don’t survive because nerves aren’t signalling to the patients’ muscles.

The Laboratory’s Assistant Professor Gina Ravenscroft said that the findings are a comfort for parents who have already experienced the suffering of a baby’s death, because they can now screen for the condition during pregnancy.

The group analysed data from the exome sequencing of all the genes in a newborn baby who had passed away within an hour of birth due to severe muscle weakness.

The researchers were able to pinpoint the gene which had mutated to cause the disease; a task which was simplified because the parents, from Sydney, were both carrying the same defective copy of the gene, GPR126.

The Perkins team then contacted colleagues in France and Brazil and discovered two other families overseas are carriers of the same disease, although in each case it is caused by different mutations in the same gene.

An exciting collaboration with Stanford University in California also helped to fit pieces of the puzzle together.

“Our work on GPR126 started with studies in zebrafish more than 10 years ago, and it is tremendously exciting that these studies contributed to the understanding of this human disease,” said Will Talbot, who is a Professor of Developmental Biology at the Stanford School of Medicine.

DNA diagnostic panel tests can now be extended to include the new gene, so that families can find out early during pregnancy whether their child has inherited the disease.