Genome sequencing of a family with a history of primary progressive MS

Dr Judith Field

The Florey Institute for Neuroscience and Mental Health, VIC

| Causes and Prevention | Genetics | Incubator | 2016 | Investigator Led Research |


MS is not traditionally thought of as an inherited disorder, however having a relative such as a parent or sibling with MS significantly increases your risk of developing MS. This indicates that there is a genetic component of the disease. For some families the risk is higher than in other families, and these families with higher risk can really help the search for identifying important MS genes. While there has been a lot of work into the way that genes control the risk of MS, genes responsible for progressive MS have still not been identified. The understanding of progressive MS genetics will give important insights into how this disease develops.
Dr Field has identified an extended family with a history of primary progressive MS. Using some of the latest advances in DNA sequence technologies, Dr Field’s group is planning to carry out extensive DNA sequencing (also known as deep sequencing) on members of this family. Deep sequencing checks the DNA of each individual multiple times to ensure any rare variants or alterations in the DNA are detected. In contrast to methods that have been used in the past, this method can also detect structural changes in DNA, or rearrangement of genes. Taken together this project utilises the power of family genetics with the latest DNA sequencing technologies in an effort to gain further insight into the complex genetics of progressive MS.

Progress to Date

Dr Field and her team have collected the medical history and other relevant information from the 11 members of this extended family. This includes noting any other autoimmune and/or neurological diseases. The team has successfully completed sequencing the whole genome (or all of the genes) for each of the family members. This is a big accomplishment as the DNA collected needs to be of sufficiently high quality and quantity for accurate sequencing.

This year Dr Field’s team will take this vast array of data and attempt to identify any novel genetic variations occurring in individuals with primary progressive MS. They will also use computer algorithms to determine how these genetic variants are inherited, to be able to predict how future family members may be affected. Understanding the genetics behind primary progressive MS may well shed light on how primary progressive MS develops and may enable targets for future therapies to be identified, as there are currently there is limited treatment options for people with PPMS.

Updated 27 June 2017

Updated: 03 January, 2016


  • Dr Judith Field, The Florey Institute for Neuroscience and Mental Health, VIC

Grant Awarded

  • Incubator Grant

Total Funding

  • $18,000


  • 1 year over 2016

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Genome sequencing of a family with a history of primary progressive MS