Improved Diagnosis of Primary Immunodeficiency
Dr Tri Giang Phan
Garvan Institute of Medical Research
Primary immunodeficiency diseases (PIDs) are rare inborn errors of immunity that are extremely difficult to diagnose and treat. Whole genome sequencing has revolutionised the diagnosis and treatment of many PID patients with the discovery of >354 disease-causing genes. This has enabled mechanism-based precision treatments that target the underlying genetic defect. However, as many as 58% of the 150 patients who have undergone whole genome sequencing by the Clinical Immunogenomics Research Consortium Australasia (CIRCA) still remain undiagnosed. A major reason for this has been the onerous, labour-intensive task of analysing the genomes which has resulted in slow turn-around-time to reporting of the genomes.
This project will use new machine-learning based bioinformatic tools to mine the patients' genomic data to discover new disease-causing mutations. Understanding how these mutations cause disease will provide opportunities to discover new ways to treat immune diseases and cancer.
Dr Tri Giang Phan was awarded the 2019 AIFA Primary Immunodeficiencies Clinical Research Grant of $25,000 supported by CSL Behring. He works at the Garvan Institute in Sydney.
Content created September 2019