CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Greater understanding of the smallest meaningful improvements f…
Multi-omics in combination with advanced computational methodologies synthesizes diverse omics data to provide deeper insights into molecular interac…
There is a greater prevalence of multiple sclerosis (MS), a neurological autoimmune condition, in populations living further from the equator, hypoth…
Recently, researchers from The Kids Research Institute Australia, Perth Children’s Hospital and The University of Western Australia contributed to th…
Monkeypox virus (MPXV) has been linked to vertical transmission, but systematic data are scarce. We aimed to describe the sociodemographic, clinical,…
The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating pe…
X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed…
The Kids Research Institute Australia is proud to be a part of the Rare Care Comprehensive Centre (RCCC) for children with rare and undiagnosed disea…
Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significa…