Corporate Banner
Satellite Banner
Next Gen Sequencing
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
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 2,600+ scientific posters on ePosters
  • More than 3,800+ 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
New Virus Identified In Blood Supply
Scientists have discovered a new virus that can be transmitted through the blood supply.
Far-reaching Genetic Study of 1,000 UK People
300,000 gene variants from 1,000 people made publically available via F1000Research.
DNA Alterations as Among Earliest to Occur in Lung Cancer Development
Genetic footprints of precancer detectable in some blood samples.
Targeting DNA
Protein-based sensor could detect viral infection or kill cancer cells.
Genetic Sleuthing
Sabeti team applies Ebola methods to shed light on spread of Lassa fever.
Seeking “Gold Standard” Wastewater Treatments
Metagenomic analyses lend insights into how microbes break down wastewater contaminants.
Using Genetic Sequencing to Manage Cancer in Children
A team of scientists have investigated the feasibility of incorporating clinical sequencing information into the care of young cancer patients.
Big Data Tool to Reveal Immune System Role in Diseases
Researchers from the Icahn School of Medicine at Mount Sinai and Princeton University have designed a new online tool that predicts the role of key proteins and genes in diseases of the human immune system.
Next-Gen Genomic Tests Identify Brain-Eating Amoeba
New UCSF center aims to make tests more affordable and accessible to doctors.
Genetic Overlapping in Multiple Autoimmune Diseases May Suggest Common Therapies
CHOP genomics expert leads analysis of genetic architecture, with eye on repurposing existing drugs.

Skyscraper Banner
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
2,600+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos