Graduate Research Degree Awarded - Jinia Lilianty

Congratulations to Jinia Lilianty-  Graduate Research Degree Awarded 14th November 2024

Degree: PhD
Supervisors: A/Prof. Shireen Lamande, Prof. John Bateman
Advisory Committee: Prof. Ed Stanley, Dr. Kiymet Bozaoglu

Thesis Title: Using human induced pluripotent stem cells (hiPSCs) and CRISPR-Cas9 gene editing to generate in vitro disease models for collagen II cartilage disorders

Thesis Summary:

Mutations in COL2A1, a gene encoding a key structural protein in cartilage, cause a spectrum of genetic skeletal disorders ranging from mild arthritis to perinatal lethality. The molecular mechanisms underlying these mutations remain unclear, and no effective drug therapies are available. Using CRISPR/Cas9 gene editing and cartilage organoids derived from human-induced pluripotent stem cells, this study developed clinically relevant systems for modelling collagen II disorders. The study found that these mutations disrupted cartilage formation and identified a potential therapeutic target, paving the way for testing therapies for these genetic disorders.

Date awarded: 14th November 2024