Featured Research

from universities, journals, and other organizations

Genetic key to lupus shows potential of personalized medicine

Date:
August 19, 2014
Source:
Australian National University
Summary:
DNA sequencing of a lupus patient has identified a specific genetic mutation that is causing the disease, opening the way for personalized treatments. 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.

Medical researchers have used DNA sequencing to identify a gene variant responsible for causing lupus in a young patient.

Related Articles


The development shows that for the first time, it is feasible for researchers 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 experi.ence 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.


Story Source:

The above story is based on materials provided by Australian National University. Note: Materials may be edited for content and length.


Journal Reference:

  1. Julia I Ellyard, Rebekka Jerjen, Jaime L Martin, Adrian Lee, Matthew A Field, Simon H Jiang, Jean Cappello, Svenja K Naumann, T Daniel Andrews, Hamish S Scott, Marco G Casarotto, Christopher C Goodnow, Jeffrey Chaitow, Virginia Pascual, Paul Hertzog, Stephen I Alexander, Matthew C Cook and Carola G Vinuesa. Whole exome sequencing in early-onset cerebral SLE identifies a pathogenic variant in TREX1. Arthritis & Rheumatology, August 2014 DOI: 10.1002/art.38824

Cite This Page:

Australian National University. "Genetic key to lupus shows potential of personalized medicine." ScienceDaily. ScienceDaily, 19 August 2014. <www.sciencedaily.com/releases/2014/08/140819113159.htm>.
Australian National University. (2014, August 19). Genetic key to lupus shows potential of personalized medicine. ScienceDaily. Retrieved November 28, 2014 from www.sciencedaily.com/releases/2014/08/140819113159.htm
Australian National University. "Genetic key to lupus shows potential of personalized medicine." ScienceDaily. www.sciencedaily.com/releases/2014/08/140819113159.htm (accessed November 28, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Experimental Ebola Vaccine Shows Promise In Human Trial

Experimental Ebola Vaccine Shows Promise In Human Trial

Newsy (Nov. 27, 2014) — A recent test of a prototype Ebola vaccine generated an immune response to the disease in subjects. Video provided by Newsy
Powered by NewsLook.com
Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) — Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
Today's Prostheses Are More Capable Than Ever

Today's Prostheses Are More Capable Than Ever

Newsy (Nov. 26, 2014) — Advances in prosthetics are making replacement body parts stronger and more lifelike than they’ve ever been. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins