The work that has gone into researching the extremely complicated symptoms that combine to produce ROSAH Syndrome has been an international effort, spanning many years.
It started several years ago when Professor Robyn Jamieson from Children’s Medical Research Institute in Sydney, Australia met patient Beth White to discuss her Retinal Dystrophy.
When it became obvious that Beth’s vision loss was now being experienced by her three children, and all had other unusual symptoms, Professor Jamieson was intrigued and suspected a novel gene was involved.
This led Professor Jamieson to work with collaborators across the world to discover the ALPK1 gene and name the ROSAH Syndrome.
Based on this work, Professor Jamieson is now exploring the function of the gene, with the aim of providing improved therapy approaches for the condition.
Read more about Robyns Research here.