Kristi Jones

Kristi Jones is a Clinical Professor at the University of Sydney, affiliated with the Children's Hospital at Westmead Clinical School and the Department of Clinical Genetics. She specializes in neuromuscular and neurocutaneous conditions, particularly neurofibromatosis type 1 and NF2-related schwannomatosis. As a senior staff specialist at the Sydney Children's Hospitals Network, she leads the Department of Clinical Genetics and co-leads the neuromuscular advanced therapeutics clinical trials team within the Kids Neuroscience Centre.

Her research focuses on genetic mechanisms in childhood neuromuscular diseases, including Duchenne muscular dystrophy and dysferlinopathy. She has pioneered clinical trials for gene therapy and advanced therapeutics since 2008, with recent work on genomic sequencing applications in pediatric neuromuscular diagnostics. Her 2024 studies analyze newborn screening for spinal muscular atrophy and Duchenne muscular dystrophy, while 2023 publications explore cardiac/pulmonary comorbidities and biomarker development in dysferlinopathy.

Key grants include the 2023 PRECISE Genomics Research Project and the 2022 Newborn Genomic Sequencing Trail, both funded by the Australian Genomics Health Futures Mission. Her work spans genetic counseling for preimplantation testing (Genea Fertility) and collaborative studies on Beckwith-Wiedemann syndrome, neurofibromatosis, and congenital myopathies.