Dr Jenny Downs leads research programs at the Telethon Kids Institute that work towards improving outcomes for children with disability and their families.
Her current program includes research on rare disorders including Rett syndrome, the CDKL5 Deficiency Disorder, MECP2 Duplication syndrome, Prader-Willi syndrome, Duchenne muscular dystrophy and Early Onset Scoliosis.
There is typically little known about the trajectory of rare disorders and how clinical issues should best be managed and Dr Downs’ research has addressed important gaps in this area.
She works with consumers to develop meaningful research programs and aims for the translation of research findings into clinical practice. She has a strong vision of what success looks like for both children and their families which, over the short- and long-term, includes living with a strong quality of life.
Dr Downs has juggled research work with raising two daughters who are now young adults.