Symposium 2: Genetic diversity in drug targets
Tracks
Track 2
Wednesday, December 10, 2025 |
11:00 AM - 1:00 PM |
Details
Genetic diversity within different populations plays an important role in both novel drug target and novel medicine discovery, from the viewpoint of understanding fundamental biology and in advancing personalised medicine. From a biological standpoint, genetic variability among individuals reveals how different genes and pathways can contribute to disease processes. By appreciating and studying this diversity, we can enhance our understanding of how populations respond to existing drugs, and can also uncover novel drug targets or new ways of targeting validated targets.
This symposium aims to address how a deeper understanding genetic diversity is essential for tailoring treatments to individual genetic profiles. Variations in genes involved in drug metabolism, efficacy, and toxicity can significantly affect patient outcomes. Recognizing and incorporating this diversity into all stages of drug development improves safety and efficacy, reduces adverse effects, and increases the likelihood of treatment success. Furthermore, focusing on underrepresented populations in genetic research expands the therapeutic landscape, ensuring equitable healthcare and uncovering targets that might be missed in homogeneous study cohorts. Overall, investigating and understanding genetic diversity deepens our understanding of human physiology and pathophysiology and enhances both the precision and inclusiveness of modern medicine.
Speaker
A/Prof Daniel Thomas
Adelaide University, SAHMRI
Novel precision medicine approaches to target neoepitopes in myelofibrosis
Biography
Dr Daniel Thomas, clinical haematologist, pathologist, and cancer scientist, trained at Stanford University School of Medicine. He leads the Myeloid Metabolism Lab at SAHMRI, focusing on the interplay between cancer, metabolism, and epigenetics to develop new drugs for rare and hard-to-treat cancers. His lab values creativity, compassion, and generosity, and has pioneered mutation-specific drug targets, repurposed medicines, and clinical trials, including Australia’s first precision medicine trial for CMML using an anti-GM-CSF antibody and high-dose Vitamin C.
Dr Thomas has co-led discoveries now in clinical use, such as therapies for myelofibrosis, JAK2 mutations, and IDH1-mutated cancers. He directs major conferences including New Directions in Leukaemia Research and the National Cancer & Metabolism Meeting. Awarded the CSL Centenary Fellowship and multiple NHMRC and MRFF grants, his goal is to deliver mutation-targeted treatments with global impact. Prospective students passionate about innovative cancer research are encouraged to contact him for internship opportunities.
Miss Grace Cumbers
PhD student
University of Sydney
Development of radiotracers for TSPO polymorphisms
Biography
Grace Cumbers is a PhD candidate at the University of Sydney, conducting her research in the Kassiou Drug Discovery Lab as part of the Danon Group. Her work focuses on investigating the functional effects of the A147T single nucleotide polymorphism in the translocator protein (TSPO) on neurosteroid production, and on developing PET radiotracers to image TSPO as a biomarker of neuroinflammation.
Grace has a background in complementary medicine and is a qualified, practicing Naturopath. After several years in clinical practice, she transitioned into research by completing a Master of Brain and Mind Sciences at the University of Sydney. She then joined the Kassiou Lab as a research assistant, where she developed a strong interest in neuroscience and drug discovery.
Now in the second year of her PhD, Grace is applying CRISPR gene editing technologies to develop drug-testing platforms using iPSC-derived brain cells. She is a recipient of the John A. Lamberton Scholarship and has participated in the SPARK commercialisation program, which supports the translation of academic research into real-world applications.
Drawing on her clinical experience, Grace is passionate about bridging the gap between laboratory research and patient care. She has a strong interest in the development and operation of clinical trials and is particularly focused on the integration of plant-based compounds into evidence-based neuropharmacological therapies.
Prof Mary Chebib
University of Sydney
Patients carrying epilepsy-causing variants in GABAA receptors require treatments based on a precision medicine approach
Biography
Professor Mary Collins Chebib is a distinguished senior academic leader at the University of Sydney, currently serving as Associate Dean (Research) for the Faculty of Medicine and Health, following her tenure as Head of the School of Medical Sciences. Her leadership portfolio encompasses strategic research development, academic mentorship, and fostering cross-disciplinary collaboration across multiple STEM faculties, and commitment to nurturing the next generation of biomedical researchers.
Renowned for her pioneering work in neuropharmacology, Professor Chebib’s research centres on Cys-loop ligand-gated ion channels, with a particular focus on GABAA and nicotinic acetylcholine receptors. She is nationally and internationally recognized as a leading GABAA receptor pharmacologist, evidenced by her editorial appointments with high-impact international journals and frequent invitations to present at major scientific conferences.
Professor Chebib has authored over 150 peer-reviewed publications in top-tier journals, collectively cited more than 5,500 times. Her research excellence has been supported by competitive funding from the National Health and Medical Research Council, the Australian Research Council, and industry partners, with total grant income exceeding $12 million.
A dedicated mentor and educator, she has successfully supervised 16 PhD candidates and 2 Master's students, many of whom have gone on to prominent roles in academia, international research institutions, and the pharmaceutical and biotechnology sectors. Among her 41 Honours students, 7 have received the prestigious University Medal, and 34 graduated with First Class Honours.
Dr Shane Hellyer
Monash Institute of Pharmaceutical Sciences
Novel GRM1 mutations in juvenile ataxia
Biography
Dr Hellyer is an EMCR researcher at the Monash Institute of Pharmaceutical Sciences, and it Deputy lab head of the Neuropharmacology lab within Drug Discovery Biology. His works focuses on the molecular pharmacology of GPCRs involved in neurophysiology and neuropathophysiology. In particular, Dr Hellyer is interested in the impact of single nucleotide variants found in patients populations, how they contribute to disease aetiology and how they potentially affect drug action on through changing receptor function. Dr Hellyer has published 21 peer reviewed journal articles and 1 book chapter, acting as a Chief Investigator on competitive grants worth $1.4 million.
Chair
Pramod Nair
Senior Research Fellow in Computational and Molecular Pharmacology
Flinders University
Eryn Werry
Senior Lecturer
The University Of Sydney
