The gene identified was not previously known to be involved in human disease - but was found in yeast. This discovery means children and adults can be tested to find out if they are carriers. If both parents are carriers, on average, there is a 1 in 4 chance of a child being born with ARC syndrome.
These findings have been published in the prestigious Nature Genetics journal. Lead author Dr Paul Gissen works at the University of Birmingham and the Liver Unit, Birmingham Children's Hospital. His research fellowship is sponsored by charity Wellchild. Other experts collaborated from around the UK, Europe, Israel and Saudi Arabia.
Prof Eamonn Maher, head of Medical Genetics at the University of Birmingham explains the impact of this study: "We are excited to isolate the cause of this awful disease. This research is front-end molecular biology that sheds light on the genetic basis of diseases. This will impact on doctors seeking understand the causes of these conditions; and will lead to better information and testing for those families affected by this disorder".
Professor Deirdre Kelly, Head of Liver Unit at Birmingham Children's Hospital adds: "Hopefully the discovery of this new gene will not only increase understanding of how the disease develops, but will, eventually, provide hope of a treatment for affected infants."
It is hoped that successful research such as this is facilitated in future with the building of a new WellChild Centre in Birmingham. The centre will bring together the expertise of the University of Birmingham Medical School, the Institute of Child Health and Birmingham Children's Hospital.