Bioinformatics is a scientific discipline that combines techniques from areas like statistics, computer science and molecular biology to analyse biological data for research and clinical purposes.
Biological data is abundant and can come in many forms, such as the structure and composition of molecules in our bodies, and how these compositions influence the behaviour of living organisms.
In recent years, bioinformatics has broadened its applications, including biomedical imaging analysis and the development of AI models for personalised medicine and drug discovery. Bioinformatics also helps to generate scientific hypotheses which are then confirmed in the laboratory.
The field began to flourish in the 1990s with the Human Genome Project, which aimed to define the entire human genome. This monumental task, which would have been impossible without bioinformatics, has since driven numerous advancements in science and medicine.
A genome is the complete set of DNA in an organism, often referred to as the blueprint of life. Some genomes, like those in viruses and bacteria, are small, while others, such as those in certain plants, are exceptionally large. Within genomes, specific regions called genes provide instructions that allow living things to function, influencing traits like physical appearance.
Sometimes, variations in genes can lead to diseases. For instance, it is estimated that 55-65 per cent of women with a mutation in the BRCA1 gene will develop breast cancer before the age of 70.
A genome is the complete set of DNA in an organism, often referred to as the blueprint of life
Various initiatives are underway, both locally and across Europe, to gather more genomic data for analysis and scientific research. In the UK, Genomics England has sequenced 100,000 genomes from around 85,000 NHS patients with rare diseases or cancer. This project has led to groundbreaking insights into the role of genomics in healthcare.
Similar research efforts are happening in Europe. In Malta, studies like StudjuDWARNA aim to conduct a comprehensive evaluation of the genomes in Malta.
Beyond human health, bioinformatics is vital in fields such as agriculture, environmental science and biotechnology. It helps improve crop yields, track disease outbreaks and monitor biodiversity on a global scale. As bioinformatics evolves, its influence on science and medicine will continue to grow. What started as a tool for managing data has matured into a cornerstone of modern biology, driving groundbreaking advancements. With its ability to unlock the mysteries of life, bioinformatics is a field whose importance cannot be overstated.
Jean-Paul Ebejer is an associate professor at the Centre for Molecular Medicine and Biobanking and an associate member of the Department of AI at the University of Malta (UM). His research interests include artificial intelligence and bioinformatics, and he coordinates the MSc in Bioinformatics programme at UM. He is also a leading member of the Bioinformatics Research Group at UM.
Sound Bites
• Scientists found that cellulose diacetate foam (CDA) is the fastest-degrading bioplastic in an ocean environment. This new foam material is demonstrated to be a viable replacement for Styrofoam products and single-use plastics, like food packaging trays, as it achieves all the benefits of plastic but doesn’t contribute to plastic pollution. This biodegradable bioplastic foam was evaluated in a flow-through seawater tank. After 36 weeks, the CDA foam lost 65-70 per cent of its mass, and the degradation rate of the CDA foam was 15 times faster than solid CDA.
• A new vaccine provides hope for treating and even preventing the highly contagious and difficult-to-treat Clostridioides difficile infection, more commonly known as C. difficile or C. diff. In animal models, this first mRNA-LNP C. difficile vaccine was found to protect against C. difficile first-time infections and relapsing infections by inducing a robust immune response, promote clearance of existing C. diff bacteria from the gut, and even overcome deficits in host immunity to protect animals after infection, according to researchers. The results will pave the way for clinical trials of the vaccine.
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DID YOU KNOW?
• In 1854, doctors James Bovell and Edwin Hodder gave milk transfusions to a series of patients believing the milk would transform into white blood cells. The first patient recovered but the next five died.
• A 2015 study found that people are more willing to save their pet from imminent death than a person they aren’t related to.
• Synchronised swimmers sometimes bathe their eyes in diluted milk to prepare them for swimming without goggles.
• During World War II, Norwegians wore paperclips as a symbol of anti-Nazi resistance.
For more trivia, see: www.um.edu.mt/think.