Lachlan Jolly

Dr Lachlan Jolly serves as Head of the Neurobiology Research Group and First 1000 Days Fellow at the University of Adelaide, affiliated with the School of Biomedicine within the Faculty of Health and Medical Sciences. His research focuses on understanding the genetic, molecular, cellular, and developmental processes underlying brain development to provide targeted treatments for neurodevelopmental disorders (NDDs).

Dr Jolly's research program centers on three major projects: (1) Nonsense Mediated mRNA Decay (NMD) pathways, where he discovered NMD factor mutations cause NDDs and is developing NMD-targeted therapies for nonsense mutation diseases; (2) Protein degradation mechanisms, where he investigates ubiquitin-dependent protein de-ubiquitination in brain development with over 20 years of expertise; and (3) Discovery of disease-causing splice variants using CRISPR dCas9 technology to study silent genes in patient-derived cells.

His work addresses the challenge that neurodevelopmental disorders affect approximately 2% of the global population, with genetic mutations as the primary cause in developed countries. With around 1,000 genes and 10,000 variants implicated in NDDs, Dr Jolly's strategy targets 'points of convergence' between disorders of different genetic origins, particularly cellular degradation pathways including NMD and protein ubiquitylation.

Dr Jolly's research has significant clinical implications, as nonsense mutations account for 13% of all genetic diseases, and haploinsufficiency affects approximately 3,000 genetic conditions. His NHMRC Ideas Grant (2021-24) and Sanfilippo Foundation funding (2021-2022) support the development of biomarkers, biosensors, and FDA-approved molecules to modify NMD pathways.

His research outputs demonstrate a strong focus on translational science, with recent publications examining proteomic analysis of brain development, deubiquitinating enzymes in NDDs, and neural differentiation in genetic disorders. Dr Jolly has established global collaborations with clinicians and scientists and developed diagnostic tools for patients with neurodevelopmental conditions.

As an active researcher with publications spanning from 2004 to 2025, Dr Jolly maintains dual office locations at the Adelaide Health and Medical Sciences building (Eighth Floor) and the Clarence Reiger Building at the Women's & Children's Hospital (Second Floor), reflecting his integration of basic science with clinical applications.