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9 maltatoday | SUNDAY • 9 JULY 2023 NEWS Study plans to unlock secrets of Maltese genetic makeup KARL AZZOPARDI A research project plans to un- lock the secrets of the Maltese genome and enable researchers to study the impact of genetic variations on disease. The ambitious project by the University of Malta will for the first time create a biobanking initiative for the whole popu- lation. The study promises to shed light on the genetic archi- tecture of the Maltese popula- tion. The groundbreaking initiative, known as studjuDWARNA, aims to establish a comprehen- sive collection of biological sam- ples and associated clinical data from volunteers, laying the foun- dation for collaborative research at the University of Malta. By employing cutting-edge genomic sequencing and anal- ysis techniques, researchers will delve into the depths of the Maltese genome, investigating the interplay between genetic variations and disease suscep- tibility. What sets studjuDWARNA apart from previous genetic studies is its focus on capturing the breadth of genetic diversity within the Maltese population rather than of a particular co- hort. This approach allows re- searchers to explore the intri- cate nuances of the Maltese genetic landscape, enabling the identification of genetic vari- ants associated with both rare and common diseases. With its strategic location at the crossroads of Europe and the Middle East, Malta stands as a melting pot of genetic di- versity, making it an invaluable resource for understanding the impact of genetic variations on both rare and common diseases. By studying a representative sample of the population, re- searchers hope to unravel the complex genetic underpinnings of various health conditions. The project is led by Profes- sor Nikolai Pace, a geneticist and Professor Gillian Martin, a medical sociologist from the University of Malta. They outlined the short-term and long-term aims of the re- search. In the short term, the goal is to create a comprehen- sive collection that represents the broader genetic diversity of Malta, the project leaders said. "A sample of 1,000 would give us a proper representation of the Maltese genome," Pace add- ed. In the long term, the project aims to establish itself as a valu- able resource on the genomes of Malta for biomedical research- ers and clinicians engaged in ge- netic research. It would serve as a reference point for conduct- ing studies related to genetics, providing crucial insights and information. Professor Pace also outlined how DWARNA-BIO, the bio- bank hosted at the Centre for Molecular Medicine and Bio- banking within the University of Malta, operates within the organisational framework of BBMRI – ERIC , the European research infrastructure for bio- banking. This network's objec- tives include identifying and lo- cating repositories of biological material, harmonizing banking practices, and disseminating knowledge and resources to the scientific community. "By achieving these aims, stud- juDWARNA not only seeks to advance our understanding of the medically-relevant aspects of the Maltese genetic land- scape but also aims to contrib- ute to local and international scientific collaboration and the progression of genetic research as a whole," he said. StudjuDWARNA will also en- able the construction of a ref- erence Maltese genome, which will be a powerful tool for health research. This is the first time a popu- lation biobanking initiative will be carried out in Malta. Bio- banking describes the process of collecting, processing, stor- ing, and distributing biological samples, such as blood, tissue, DNA, or cells, along with asso- ciated clinical and demographic data. These samples and data are preserved in specialized repos- itories called biobanks, which serve as invaluable resources for scientific research, medical studies, and the development of personalized medicine. Biobanks play a crucial role in facilitating various areas of research, including genomics, proteomics, and biomarker dis- covery. They provide research- ers with access to well-charac- terized samples from diverse populations, allowing for the identification of genetic vari- ations, biomarkers, and other factors associated with diseases, treatment responses, and health outcomes. By analysing samples from both healthy individuals and those affected by various con- ditions, biobanks enable re- searchers to explore the genetic and environmental influences on human health. How will samples be collected? The collection of samples for the StudjuDWARNA is a straightforward and painless process designed to ensure participant comfort and con- venience. Individuals who are interested in participating can contact the project team using the webportal dwarna.mt to schedule an appointment. During the appointment, a researcher will be available to address any questions or con- cerns, allowing participants to make an informed decision about their involvement. To collect DNA, a blood or salivary sample is taken. Af- ter the sample is collected, it is carefully stored in appropriate storage facilities to ensure its preservation and integrity. While the sample undergoes storage, researchers will guide participants through the neces- sary consent documents. These documents outline the purpose of the study, the use of the sam- ples and associated data, and any potential risks or benefits. Participants will have the op- portunity to review and discuss the consent documents with the research team, ensuring their understanding and providing informed consent for their in- volvement in the project. By following these steps, the DWARNA research project ensures that the sample collec- tion process is conducted with the utmost care, transparency, and respect for the participants' rights and well-being. Anyone interested in partici- pating can apply on dwarna.mt. The research is being carried out at the Centre for Molecu- lar Medicine and Biobanking at the University of Malta, which hosts researchers from the Fac- ulty of Medicine and Surgery, the Faculty of Science and the Faculty of Health Sciences. The University of Malta is undertaking an ambitious project to sample DNA from Maltese people to create a picture of the Maltese genome that researchers can then use