Understanding the genetic basis of the immune problem

Dr Dan Suan

Garvan Institute for Medical Research

| Causes and Prevention | Genetics | Incubator | 2018 | Investigator Led Research |
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Summary

The exact cause of MS remains unknown. What is known is that at least part of the disease is caused by the immune system attacking the brain and spinal cord. What causes the immune system to mistakenly attack the body is unclear. One possibility is that genetic changes which arise in the immune cell causes these cells to make mistakes and target the body.

Recent scientific studies have suggested that more genetic changes or mutations happen in the cells of the human body as we live. In this project, Dr Suan is investigating whether such mutations may occur in the immune cells of people with MS, which may at least partly explain the sporadic cases of MS.

This project will use the latest DNA sequence technologies to look at individual immune cells of people recently diagnosed with MS, to hunt for the identity and characteristics of the "rogue" autoimmune cells that develop in people with MS and contribute to brain lesions. It is hoped that this research will lead to better diagnostic biomarkers and targeted therapies can be identified, thereby pushing the field closer towards a cure for MS.

Progress to Date

A team of neurologists from five centres across Sydney has been assembled, and blood samples have been collected from six people with MS who are not on therapy. This is in itself a difficult task, because, thankfully, people who are newly diagnosed are quickly moved onto treatment.

Latest developments in the field prompted the team to update the study to collect not only blood immune cells, but also include matching samples of cerebrospinal fluid, collected by lumbar puncture.   These samples contain the immune cells that have successfully invaded through the blood-brain barrier into the brain and spinal cord. This will give the team an enriched source of the autoimmune cells that are targeting the brain and spinal cord in MS.

In addition, the team will now determine whether these cells in the brain and spinal cord are infected with Epstein Barr virus (EBV) at higher rates than those in the blood. Being infected with EBV has been implicated in having a higher  risk of developing MS, and may allow autoimmune cells to evade being killed by the immune system.

While sample collection has been slowed due to the COVID-19 pandemic, a very exciting development has been the award of USD $150,000 to the project from a US funding body to fund the “single-cell” sequencing analysis of the immune cells, which will allow the researchers to look at cells one at a time. The MS Research Australia Incubator funding of $25,000 for this project has thus leveraged an >8-fold increase in project funding, and international support, such that this innovative Australian project is now well underway and fully funded.

Updated: 18 June 2020

Updated: 02 January, 2018

Investigator

Co-investigator

  • Professor Christopher Goodnow, Garvan Institute for Medical Research
  • Dr Mandeep Singh, Garvan Institute for Medical Research

Grant Awarded

  • Incubator Grant

Total Funding

  • $25,000

Duration

  • 1 year over 2018

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