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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

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A/Prof Daniel Thomas
University of Adelaide

Novel precision medicine approaches to target neoepitopes in myelofibrosis

Abstract document

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.
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Grace Cumbers
PhD student
University of Sydney

Development of radiotracers for TSPO polymorphisms

Abstract document

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.
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Prof Mary Chebib
University of Sydney

Patients carrying epilepsy-causing variants in GABAA receptors require treatments based on a precision medicine approach

Abstract document

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.
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Dr John Scott
Senior Research Fellow
Monash Institute of Pharmaceutical Sciences

Mutations in disease related kinases: implications for drug discovery

Biography

Dr Scott’s primary research interest is on understanding the kinase signaling pathways that regulate mood and behavior in response to hormones and metabolites that signal changes in energy availability. His research is specifically focused on the control of the CaMKK2 pathway, which is a regulator of brain function and whole-body energy metabolism. Loss-of-function mutations in CaMKK2 are linked with bipolar disorder and schizophrenia in humans. A major goal of Dr Scott’s research is to validate CaMKK2 as a rational treatment target for mood and related psychiatric disorders, and he has established international collaborations with academic and industrial partners to develop new drugs that target CaMKK2. Dr Scott graduated with a Bachelor of Science (Hons) from the University of Glasgow and a PhD in Biochemistry from the University of Dundee funded by a prestigious Wellcome Trust Prize scholarship, after which he moved to Melbourne to undertake postdoctoral studies with Prof Bruce Kemp AO at St Vincent’s Institute of Medical Research (SVIMR). Dr Scott is currently a Senior Research Fellow and Group Leader at Monash Institute of Pharmaceutical Sciences (MIPS) and an Honorary Senior Research Fellow at the Florey Institute of Neuroscience and Mental Health. He also holds a Senior Research Associate appointment at SVIMR. His research team uses a wide range of techniques including biochemistry, cell biology, protein crystallography, mass spectrometry, and genetically modified mouse models to decipher the role of the CaMKK2 pathway in the regulation of brain function and whole-body metabolism in health and disease.

Chair

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Pramod Nair
Senior Research Fellow in Computational and Molecular Pharmacology
Flinders University

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Eryn Werry
Senior Lecturer in Brain and Mind Sciences and Research Associate in Drug Discovery
The University Of Sydney

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