Dr Jenny Downs is Head of the Development and Disability Research Program at Telethon Kids Institute. Her current programs include research on rare disorders including Rett syndrome, the CDKL5 Deficiency Disorder, MECP2 Duplication syndrome and Prader-Willi syndrome, working with national and international intellectual disability database infrastructures. She also works with Down syndrome, autism and cerebral palsy which are more common neurodevelopmental disorders. Dr Downs has led the development of outcome measures of functional abilities for children with severe disabilities, and quality of life, the Quality of Life Inventory – Disability (QI-Disability) for children with intellectual disability. She has run clinical trials investigating early intervention and strategies to increase physical activity in Rett syndrome. Her research is guided by her vision that all children with developmental vulnerability or disability will live with better health and quality of life, by ensuring that interventions to support their needs are evaluated with rigour and consistency.