Biodiscovery

Metabolic Disorders

A metabolic disorder is a broad category of diseases in which the body’s biochemical processes that maintain life are disrupted. These processes, collectively known as metabolism, include the breakdown of food into energy, the synthesis of essential molecules, and the elimination of waste products.

More precisely, it refers to:

A condition in which abnormalities in enzymes, hormones, or cellular pathways impair the body’s ability to convert, store, or use nutrients effectively, leading to imbalances in energy production and chemical levels within the body.

A metabolic disorder means the body cannot properly manage the chemical reactions needed to turn food into energy and maintain balance, which can disrupt normal bodily function.

How metabolic disorders form in the body

Metabolic disorders develop when the body’s normal chemical processes are disrupted. This can happen in several ways:

• Genetic mutations
  Inherited faults in genes can lead to missing or defective enzymes, blocking normal metabolic pathways
• Hormonal imbalances
  Problems with hormones such as insulin or thyroid hormones can disrupt how the body regulates energy
• Lifestyle factors
  Poor diet, lack of exercise, and obesity can lead to conditions like insulin resistance
• Organ dysfunction
  Issues in organs like the liver or pancreas can affect metabolism
• Chemical imbalances
  Substances may build up to harmful levels or not be produced in sufficient amounts

Why it matters

• Can lead to serious conditions such as diabetes and heart disease
• Affects the body’s ability to produce and use energy properly
• May cause long term organ damage
• Can reduce quality of life and increase risk of complications
• Some forms can be life threatening if untreated

Metabolic disorders form when the body’s chemical processes are disrupted, and they matter because they can seriously affect energy balance, organ function, and overall health.

Why are matabolic disorders harmful?

• Energy imbalance
  The body cannot properly produce or use energy, leading to fatigue and poor function
• Build up of harmful substances
  Toxic compounds or excess nutrients can accumulate and damage cells
• Organ damage
  Long term effects can harm organs such as the liver, heart, kidneys, and brain
• Hormonal disruption
  Imbalances in hormones like insulin can worsen the condition and cause further complications
• Increased disease risk
  Raises the likelihood of conditions such as diabetes, cardiovascular disease, and stroke

Overall impact

• Reduced quality of life
• Chronic illness and long term complications
• In severe cases, can be life threatening

Metabolic disorders are harmful because they interfere with how the body produces energy and maintains balance, leading to damage across multiple body systems.

Metabolic Disorder Classifications:

Metabolic and lipid systems biology focuses on understanding:

• How cells process and regulate nutrients and fats
• How metabolic and lipid pathways interact
• How disruptions in these systems contribute to diseases such as obesity, diabetes, and cardiovascular disease

Researchers use advanced technologies and computer modelling to study how biological networks function together rather than examining one molecule in isolation.

Why it matters

This field is important because it helps scientists:

• Understand the causes of metabolic diseases
• Identify biomarkers for early diagnosis
• Develop targeted treatments and personalised medicine
• Improve understanding of cholesterol, fat storage, and energy regulation

It is the study of how the body manages energy and fats through interconnected biological systems and how problems in these systems can lead to disease.

Metabolic and Lipid Systems Biology  Research.

At Curtin MRI Dr Luke Whileyand his team specialise in Leukaemia Transalational Research.

This

research explores the interconnected roles of metabolism, genetics, and physiology in health and disease. Using advanced metabolomics, lipidomics, and multi-omics technologies, his team characterises metabolic phenotypes across a range of biological contexts, including neurodegenerative disorders such as Alzheimer’s and Parkinson’s disease, as well as ageing, infection, trauma, and cardiometabolic health.

By integrating large-scale molecular, clinical, and genetic datasets, his research applies systems biology approaches to uncover key pathways influencing disease risk, resilience, and progression. The overarching goal is to identify biomarkers, therapeutic targets, and mechanistic insights that advance precision medicine and deepen our understanding of human biology.

Dr Luke Whiley

What it examines

Researchers investigate how variations in genes and chromosomes:

• Initiate tumour formation
• Influence cancer growth and spread
• Affect how patients respond to therapies

Why it matters

Cancer genomics underpins precision medicine, helping tailor treatments to individual patients based on their tumour’s genetic profile. It has been critical in advancing targeted therapies and improving understanding of cancers such as breast cancer and lung cancer.

Cancer Genomics Research.

At Curtin MRI Prof Dr Carlessi and his team specialise in Cancer Genomics Research.

This research focuses on advancing the early detection and treatment of hepatocellular carcinoma (HCC) through the integration of molecular diagnostics, genomics, and therapeutic innovation. We aim to develop transformative approaches that improve how liver cancer is identified, monitored, and treated.

Key areas of investigation include the development of liquid biopsy technologies, particularly ctDNA based assays, to enable early diagnosis and real time disease monitoring. We are also exploring CRISPR Cas13 based RNA therapeutics to selectively target and degrade cancer promoting transcripts, establishing new avenues for precision treatment. In parallel, our work examines epigenetic reprogramming strategies to reverse abnormal DNA methylation patterns and suppress tumour progression.

Through these interdisciplinary efforts, we seek to establish effective strategies for early detection, personalised therapy, and improved long term management of liver cancer.

Dr Rodrigo Carlessi

What it involves

This field examines:

• How immune cells detect and destroy abnormal or tumour cells
• How cancer cells evade immune surveillance
• The role of inflammation and immune signalling in tumour growth

Why it matters

Cancer immunology has led to major advances in treatment, particularly through immunotherapies that enhance the body’s natural defences against cancer. These include checkpoint inhibitors and other strategies that improve immune recognition of tumours in diseases such as melanoma and non-small cell lung cancer.

Cancer Immunology Research.

At Curtin MRI Associate Professor Delia Nelson and her team specialise in Cancer Immunology Research.

This research research focuses on understanding the complex interactions between the innate and adaptive immune systems and how these systems communicate with the vascular network during tumour progression. We also investigate how ageing influences these immune and vascular interactions, shaping disease outcomes and therapeutic responses.

In addition, we study the effects of standard chemotherapy, as well as emerging treatments including immunotherapies, gene therapies, vascular-targeting strategies and metal-based therapies, on these immune and vascular processes.

Assoc. Prof Delia Nelson

What it involves

• Identifying disease mechanisms and potential therapeutic targets
• Designing and developing new drugs or treatment approaches
• Conducting preclinical studies in laboratory and model systems
• Testing safety, dosage, and effectiveness in clinical trials
• Monitoring patient responses and potential side effects
• Analysing data to determine whether treatments should progress or be refined
• Collaborating across disciplines, including scientists, clinicians, and industry partners

Why it is important

• Provides new treatment options for diseases with limited or no effective therapies
• Ensures treatments are safe and effective through rigorous testing
• Supports personalised medicine by identifying what works best for different patients
• Helps reduce side effects by targeting therapies more precisely
• Drives medical innovation and advances in healthcare
• Improves patient outcomes, survival rates, and quality of life

Experimental Therapeutics Research.

At Curtin MRI Professor Pieter Eichhorn and his team specialise in Experimental Therapeutics Research.

This research investigates how breast cancer and melanoma develop resistance to targeted therapies, particularly through reactivation of MAPK and PI3K signalling pathways. We study how disruptions to feedback mechanisms enable cancer cells to adapt and survive treatment.

Using preclinical and clinical models, including patient derived organoids and gene edited cell lines, we examine the molecular drivers of resistance. A key focus is on ubiquitin modifying enzymes and long non coding RNAs, which regulate signalling pathways and contribute to adaptive responses under drug pressure.

We also explore how therapy resistance influences the tumour immune environment, including mechanisms of immune evasion, to support the development of combined targeted and immunotherapy approaches.

Overall, our work aims to translate mechanistic insights into strategies that overcome resistance and improve precision cancer treatment outcomes.

Prof. Pieter Eichhorn

What it involves

• Studying the biology and progression of cancers, including tumour growth and spread
• Identifying genetic, hormonal, and environmental risk factors
• Developing and testing new treatments such as targeted therapies, immunotherapies, and surgical approaches
• Conducting clinical trials to evaluate safety and effectiveness of treatments
• Improving screening and early detection methods, such as imaging and biomarkers
• Investigating reproductive health conditions and their link to cancer risk
• Exploring patient care, survivorship, and quality of life outcomes

Why it is important

• Enables earlier detection, which improves survival and treatment success
• Provides better and more personalised treatment options
• Advances understanding of cancers that uniquely or predominantly affect women
• Reduces mortality and improves quality of life for patients
• Supports prevention strategies through risk identification and screening
• Drives innovation in both cancer care and women’s health

Oncology and Gynaecolgy Research

At Curtin MRI Associate Professor Yu Yu and her team specialise in Oncology and GynaecologyResearch.

This research research focuses on advanced solid cancers and endometriosis, with an emphasis on understanding the biological mechanisms driving disease recurrence and treatment resistance. Her work aims to identify novel biomarkers and develop targeted therapies by investigating pathways such as cellular iron metabolism, cytoskeletal dynamics, and kinase activity. Using integrated omics approaches, preclinical models, and drug testing, she explores strategies to overcome chemotherapy resistance and improve treatment outcomes.

Assoc. Prof Yu Yu

What it involves

• Managing physical symptoms such as pain, fatigue, nausea, and appetite changes
• Providing psychological and emotional support, including counselling and mental health care
• Offering nutritional support to maintain strength and wellbeing
• Addressing treatment side effects from chemotherapy, radiation, or surgery
• Supporting patients with rehabilitation and physical function
• Assisting with social, practical, and financial challenges
• Providing palliative care when needed to enhance comfort and quality of life

Why it is important

• Improves quality of life for patients during and after treatment
• Helps patients better tolerate and complete cancer treatments
• Reduces the severity of symptoms and treatment side effects
• Supports mental health and emotional wellbeing
• Enhances recovery and overall health outcomes
• Provides holistic, patient centred care beyond treating the disease itself

Supportive Care in Cancer Research

At Curtin MRI Associate Professor Georgia Halkett and her team specialise in Supportive Care in Cander  Research.

This research focuses on the psychosocial and informational needs of people diagnosed with cancer, as well as those who care for them. It aims to strengthen communication between health professionals and patients, enhance support throughout cancer survivorship, and support effective return to work pathways. It also contributes to advancing evidence in radiation therapy practice.

This research is grounded in meaningful consumer engagement across all activities and draws on qualitative research, mixed methods, co design approaches, and clinical trials. It is centred on improving how information and support are delivered to cancer patients and carers, with a particular focus on psychosocial care, communication, survivorship, and return to work transitions.

Assoc. Prof Georgia Halkett

In Medical Radiation Science and Radiology, AI is commonly used to:

• Analyse medical images such as X rays, CT, MRI, and ultrasound scans
• Detect abnormalities like tumours, fractures, or organ changes with high accuracy
• Assist radiologists by prioritising urgent cases and reducing reporting time
• Improve image quality while reducing radiation dose to patients

In Radiation Oncology, AI is applied to:

• Automatically identify and outline tumours and healthy tissues for treatment planning
• Optimise radiation dose delivery to maximise tumour control while minimising damage to surrounding tissue
• Predict patient responses to treatment and potential side effects
• Support adaptive radiotherapy, where treatment is adjusted based on changes in the tumour over time

Why it is important

• Enhances accuracy and consistency in diagnosis and treatment
• Reduces workload and improves efficiency for healthcare professionals
• Enables more personalised and precise patient care
• Supports earlier detection and better treatment outcomes
• Helps integrate large and complex datasets into clinical decision making

Overall, AI is transforming medical radiation sciences by improving the speed, precision, and quality of patient care.

Artificial Intelligence in Medical Radiation Science, Radiology and Radiation Oncology

At Curtin MRI Associate Professor Curtise Ng and his team specialise in Supportive Care in Cander  Research.

This research centres on the integration of artificial intelligence and imaging informatics to advance medical imaging, radiology, and radiation oncology. The teams work explores AI-driven innovations for optimising clinical workflows, radiation dose management, image quality, and diagnostic accuracy.

They are also engaged in research on radiation dosimetry and protection, student-centred learning pedagogies, and professional practice in radiography. The interdisciplinary approach bridges medical radiation science, artificial intelligence, cardiovascular imaging, and medical education, with the overarching goal of improving healthcare quality, efficiency, and workforce sustainability.

Assoc. Prof Curtise Ng