Jenny Downs is a senior research fellow at the Telethon Kids Institute, Perth. She has been a researcher since completing her PhD in 2003 focusing on issues in relation Child Disability. Her research involves children affected with rare childhood disorders including Rett syndrome, the CDKL5 Disorder, the MECP2 Duplication Syndrome, Duchenne Muscular Dystrophy and Early Onset Scoliosis, each of which have severe impacts on affected children and their families. Families and clinicians often have little knowledge about the trajectory of rare disorders and how clinical issues should best be managed. Her work increases our understanding of their natural history: from the early years following diagnosis through childhood growth and development, and subsequently through transition to adult life. She is also investigating modifiable environmental factors including treatments that can be used to improve quality of life for those with the condition. Another aspect of her research is the development of robust outcome measures. She is currently working on the development of a measure for quality of life in children with intellectual disability.