LARGE SCALE GENETIC STUDY FINDS NEW LINK BETWEEN IRRITABLE BOWEL SYNDROME & CARDIOVASCULAR SYSTEM
With
Dr. Leticia Camargo Tavares,
Postdoctoral Scientific Researcher
Hypertension Laboratory,
School of Biological Sciences
Monash University, Clayton, Victoria, Australia
Professor Mauro D’Amato,
Professor of Medical Genetics,
Department of Medicine and Surgery,
LUM University in Casamassima, Italy &
Ikerbasque Research Professor and
Head of the Gastrointestinal Genetics Lab,
CIC bioGUNE, Derio, Spain
CASE STUDY
Filmed in Clayton, Victoria, Australia & Online | May 2025
Research published April 2024 in the journal Cellular and Molecular Gastroenterology and Hepatology sheds light on disease mechanisms common to irritable bowel syndrome (IBS) and cardiovascular diseases (CVD).
Led by Dr Leticia Camargo Tavares, a Postdoctoral Fellow at the Hypertension Research Laboratory within Monash University’s School of Biological Sciences, the study revealed novel insights into the genetic underpinnings of IBS, offering potential avenues for therapeutic intervention.
IBS is one of the most prevalent gastrointestinal disorders globally, affecting up to 10 per cent of the population, with a disproportionate impact on women.
It is characterised by a complex range of symptoms including abdominal pain, bloating, diarrhea and constipation. IBS significantly compromises patients’ quality of life. Despite its widespread prevalence, the cause of IBS remains unclear, thus limiting treatment options.
An international consortium of researchers, drawing expertise from Monash University (Australia), CIC bioGUNE (Spain), LUM University, IRGB-CNR, CEINGE, and the University of Naples Federico II (Italy), as well as the University of Groningen (Netherlands), embarked on a comprehensive investigation.
Analysing data from two large European population cohorts — UK Biobank and Lifelines — the team scrutinised the genetic landscapes of 24,735 people with IBS and 77,149 symptom-free individuals.
Their analysis uncovered four genomic regions, including two previously unidentified loci, associated with increased susceptibility to IBS.
These genetic hotspots implicate pathways central to gastrointestinal motility, intestinal mucosal integrity, and circadian rhythm regulation.
“Although we’re yet to conclusively pinpoint specific genes and mechanisms, these findings provide novel insights into IBS pathophysiology, highlighting potential therapeutic targets. So, we expect follow-up research to build on these discoveries,” Dr Tavares said.
Moreover, the researchers found a link between IBS predisposition and various cardiovascular ailments, encompassing hypertension, ischemic heart disease, and angina pectoris.
Professor Mauro D’Amato, senior author and study supervisor from CIC bioGUNE and LUM University, described this new evidence as the most exciting outcome, underscoring the potential for shared therapeutic modalities.
In another important finding, the study revealed that IBS heritability (the weight of genes in determining one’s risk of disease), might be higher than previously thought. This, the authors say, may stem from their adherence to standardised classification criteria in delineating IBS phenotypes, notably the Rome Criteria from the Rome Foundation.
Source: Adapted from Monash University media release
-
Genetic disease research imitating function and architecture of organs
Professor Wolvetang was among the first to bring the first human embryonic stem cells to Queensland, with his Wolvetang Group at the AIBN now renowned for its work with organoids: growing them, studying them, and using them to try and understand diseases and human development.
Using cutting edge technology, Professor Wolvetang designs and grows organoids both for their own work and for labs across the country, coaxing pluripotent stem cells or tissue samples into 3D structures that mimic the function and architecture of real brains, livers, kidneys, spinal cords, and intestines.
-
Trials in treating STIs, vaccines and lipid lowering medications
Since joining Paratus Clinical Research in 2022, Dr Pi Lip Seet has served as both Principal Investigator and Sub-Investigator across Phase I–IV industry-sponsored clinical trials. His research experience spans vaccines, immunology, cardiovascular and endocrine disease, respiratory medicine, gastroenterology, pain management, sleep medicine and adult psychiatry. He has been involved in multiple vaccine development programs, including RSV, influenza, COVID-19, herpes zoster and pneumococcal studies.
-
Stem cells used for age-related macular degeneration
Dr. Jenna Hall is a passionate and accomplished biologist with expertise in induced pluripotent stem cell (iPSC) culture, disease modelling, and high-throughput automated systems. She recently earned her PhD from the University of Melbourne, where her research focused on using iPSC-derived retinal pigment epithelium (RPE) cells to study age-related macular degeneration. Dr Hall’s technical skillset spans manual and automated cell reprogramming and differentiation, quantitative microscopy-based phenotyping, and large scale -omics analysis.
