Corporate Banner
Satellite Banner
Molecular & Clinical Diagnostics
Scientific Community
Become a Member | Sign in
Home>News>This Article

Sequencing Identifies Gene Variant Responsible for Lupus

Published: Wednesday, August 20, 2014
Last Updated: Wednesday, August 20, 2014
Bookmark and Share
Research demonstrates it is feasible to identify the individual causes of lupus in patients by using DNA sequencing, allowing doctors to target specific treatments to individual patients.

Lupus is a chronic autoimmune disease that affects one in 700 Australians, predominantly young and middle aged women.

Medical researchers at the Centre for Personalised Immunology, based at the John Curtin School of Medical Research (JCSMR), sequenced the genes of a young girl who suffered a stroke when she was four as a result of her lupus.

“We can now target her specific disease, and make treatments that will benefit her throughout her life,” said lead researcher Dr Julia Ellyard, from the JCSMR.

Researchers identified a variant in the TREX1 gene. This mutation caused the patient’s cells to produce a molecule called interferon-alpha. Clinical trials are already underway for drugs to target interferon-alpha in adults.

Dr Jeff Chaitow, head of rheumatology,  a co-investigator and the patient’s treating clinician at Sydney’s The Children’s Hospital at Westmead, said his young patient, now 10 years old, still needs regular steroids and immune suppressive drugs each day.

“New targeted therapy would be a major benefit in controlling her disease,” he said.

Professor Carola Vinuesa, Co-director of the Centre for Personalised Immunology, said research was showing lupus was primarily caused by defects in only one or a few genes.

“This is the new age of personalised medicine,” she said.

“This study shows that it is possible to unravel the detailed and individual genetic causes of lupus in individuals.

“Lupus is a heterogeneous disease and patients can experience a number of different symptoms. We believe that there are different genetic causes of lupus. Understanding these defective genes and pathways in each individual will help tailor treatments.”

Professor Matthew Cook, Co-director of the Centre for Personalised Immunology, said the results proved the potential benefits of personalised medicine, where doctors will be able to target treatments to individual patients.

“We are optimistic that this represents proof of principle for a new approach to diagnosis and treatment of a range of complex immunological disease,” Professor Cook said.

Results of the research are published in Arthritis and Rheumatology

Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,500+ scientific posters on ePosters
  • More than 5,200+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Scientific News
Point of Care Diagnostics - A Cautious Revolution
Advances in molecular biology, coupled with the miniaturization and improved sensitivity of assays and devices in general, have enabled a new wave of point-of-care (POC) or “bedside” diagnostics.
Smartphone Laboratory Detects Cancer
Researchers develop low-cost, portable laboratory on a smartphonecapable of analysing multiple samples simultaneously.
Nanomedicine for Breast Cancer Treatment
Using nanoparticles measuring only billionths of a meter in size, doctors are able to deliver drug molecules directly to the affected tissue.
Clamping Down on Biomolecules
Physicists have developed a novel nanotool that provides a means of characterizing the mechanical properties of biomolecules.
MRIs for Fetal Health
Algorithm could help analyze fetal scans to determine whether interventions are warranted.
Illumina Contributes to ClinVar Database
The contribution includes variants of all classifications, from pathogenic to benign, identified during interpretation of whole genome sequences generated in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.
Signaling Pathway Could Be Key to Improved Osteoporosis Treatment
Inhibition of SIK2 enzyme both stimulates bone formation and reduces bone breakdown in animal model.
Supercomputers Could Improve Cancer Diagnostics
Researchers push the boundaries of cancer research through high-performance computing to map the human immunone.
Transgenomic, Precipio Diagnostics Merger
Merger will creates a robust diagnostic platform focused on improving accuracy of cancer diagnoses.
Inflammation Test May Predict Cardiovascular Disease
An assessment combining measures of immune-cell responsiveness predicted cardiovascular problems in individuals who likely would have slipped under the radar.
Skyscraper Banner

SELECTBIO Market Reports
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,200+ scientific videos