CHARM: The Future of Personalised Medicine in Chronic Conditions Management

Wednesday, August 1, 2018

Today, Professor Matthew Cook gave a presentation at the Canberra Health Annual Research Meeting (CHARM). Professor Cook spoke about the future of personalised medicine in chronic conditions, providing a conceptual framework for this future.

CHARM is the premier conference for the communication and translation of health-related research practice in the ACT. Professor Cook was invited to discuss his research conducted through the Centre for Personalised Immunology. The annual conference explores challenges, opportunities and discoveries in health and medical research in the region. This is an opportunity for showcasing research, networking, collaboration and capacity building for researchers and clinicians in the ACT and beyond.

During this meeting, Professor Cook spoke about the technological advances that have been made in sequencing since the commencement of the Human Genome Project in 1990. This was an international scientific research project which aimed to sequence the human genome. Now, exome and genome sequencing is available to patients in clinics across the world. Whilst significant progress has been made in the classification of disease causing variants, person to person genome and exome variation is substantial. Therefore, classifying rare variants currently remains a challenge.

Research conducted at the Centre for Personalised Immunology is tackling this challenge. Exome sequencing of patients suffering from primary immune deficiencies has led to diagnosis and subsequent treatment for some patients, with a goal of helping an increasing number of individuals as the research progresses. The framework provided by Professor Cook showed a promising future for personalised medicine in managing chronic conditions.