Medical research sleuths have solved the mystery surrounding the cause of a number of rare diseases.
Professor Wendy Erber from The University of Western Australia contributed her expertise to the study, which identified 95 genes that are likely to cause unusual illnesses and lead to serious medical conditions such as unexplained bleeding and immune deficiency problems.
She was able to combine patients’ blood test results with an analysis of their entire genomes to identify the rogue, disease-causing genes.
“Study participants now know the cause of their clinical problems and finally have a confirmed diagnosis,” Professor Erber said.
“This integrated approach was critical to the analysis and understanding of such large, complex and unique sets of biological data for patients with these rare conditions,” she said.
More than a million Australians are affected by thousands of these unusual diseases.
Once they’re diagnosed they can get appropriate treatment.
“This type of research is incredibly important to combat rare genetic diseases,” Professor Erber said.
Ground-breaking university research is the first step to curing rare diseases – sign the petition to #KeepItClever now.