About Associate Professor David Booth

The Centre for Immunology at the Westmead Millennium Institute aims to use genetic discoveries to change clinical practice for Multiple Sclerosis (MS), other autoimmune diseases, and infectious diseases

For MS, we are investigating how the risk genes identified in genome wide analyses have their effects. The genes regulate vitamin D function (Shahijanian et al, Human Molecular Genetics, 2013), and immune cell subset differentiation, function and trafficking ((Parnell et al, Multiple Sclerosis Journal, 2013; Parnell et al, Clinical Immunology, 2014)- and are either novel targets for therapy or indicate novel therapeutic strategies. We have identified molecular phenotypes of MS based on measurement of blood transcription factor mRNA levels, or mRNA levels of the gene RPS6. These phenotypes can also be identified using flow cytometry for the transcription factor and RPS6 gene products. We are now investigating the immune cell subsets driving these phenotypes, their genetic control, if the phenotypes are due to altered immune cell state or trafficking, if they correlate to environmental factors such as particular viruses (EBV, HERV) and UV light, if they can be modulated with current or novel therapeutic agents (eg microparticles, siRNA), and if they can be used to predict therapeutic choice.

Associate Professor David Booth is from the Westmead Millennium Institute, University of Sydney. He received his PhD from the University of London in 1993 and has sinced worked on the genetics of human diseases such as amyloidosis, periodic fevers, multiple sclerosis and hepatitis C. His group was the first to find the first non HLA gene to be associated with MS, and to identify the likely basis for its association. With others, he has discovered that the polymorphisms of this gene have clinically significant affects in other diseases. David was Australia's representative on the IMSGC strategy group, which directed the studies recently published in Nature Genetics, identifying first 57 gene affecting MS susceptibility (2011), then increasing the number to 110 (2013).

He is an author on more than 100 refereed papers in international journals, with more than 8000 citations, and an H index of 41. He has combined academic discoveries with commercial approaches, generating several patents in MS and HCV; and winning grants in collaborations with Roche and Biogen Idec; and from Biogen Idec, Merck Serono and Sanofi Aventis. He has also worked at the clinical level, translating the latest academic advances into widely-used molecular diagnostic services in the UK and Australia.

His main research goal going forward is to find clinical applications for the genetic discoveries, especially to find molecular biomarkers to aid clinical management of MS, including for therapeutic response. Notably, his group have now identified three molecular phenotypes of MS, and are now testing their clinical applicability. They also have identified the likely mechanism for the association of the vitamin D genes with MS.

Selected publications

To view a full list of Associate Professor Booth's publications please see his Sydney Medical School academic profile page- click here