Corporate Banner
Satellite Banner
Pharma Outsourcing
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Clues to Autoimmune Conditions are Revealed by Genomic Analysis of a Skin Disease

Published: Monday, September 30, 2013
Last Updated: Monday, September 30, 2013
Bookmark and Share
UB researchers’ findings about Pemphigus vulgaris reveal a novel protective mechanism in at-risk individuals who remain healthy.

Researchers studying a rare, blistering skin condition have made a novel discovery:  they have identified a protective mechanism among genetically susceptible individuals who nevertheless remain healthy. The research is providing new clues to why some individuals who carry genetic risk factors for developing autoimmune diseases, do not go on to develop them.

The paper was published in late August in Genes and Immunity, a Nature Publishing Group journal, by researchers at the University at Buffalo’s ’s Clinical and Translational Research Center. The study of the skin condition Pemphigus vulgaris (PV), is the first genome-wide transcriptional analysis of the disease, which allows for a comprehensive survey of disease-related genes.

“Our findings introduce a potentially paradigm-shifting concept of how autoimmunity in general might be kept at bay in genetically susceptible individuals,” explains Animesh A. Sinha, MD, PhD, Rita M. and Ralph T. Behling Professor and Chair of Dermatology in the UB School of Medicine and Biomedical Sciences and lead author on the paper.

PV is an autoimmune skin disorder that results in the often painful blistering of the skin and mucous membranes. Generally treated with corticosteroids and other immunosuppressive agents, the condition is life-threatening if untreated.

According to Sinha, PV is an excellent model for the study of organ-specific human autoimmune disease.

The research, which was initiated at Weill Medical College of Cornell University/New York Hospital and completed at UB, involved the microarray screening of more than 54,000 genes in the blood of 13 patients with active PV, 8 patients in remission and 10 healthy controls. A subset of controls expressed proteins  in their blood previously identified by Sinha to be PV risk factors, but they exhibited no autoimmune symptoms.

Sinha described the goals of the study. “We wanted to establish genetic signatures relevant to the disease in order to define new molecular markers for diagnosis and prognosis, highlight biological pathways involved in the development of the disease, discover novel targets for therapy and try to pinpoint disease susceptibility genes,” he explains.

“It turns out that healthy individuals with a genetic risk factor for developing PV but who are symptom-free, have down-regulated expression of a set of genes in their blood that we found is up-regulated in patients with PV,” he explains.

“This suggests a ‘protection signature’ in healthy individuals carrying these genetic risk elements,” he says.

“We believe that this is the first time that such a protection signature has been identified for any autoimmune condition,” says Sinha. “Eventually, we might be able to leverage information contained within this ‘natural response’ of the immune system against autoimmunity in order to develop entirely new strategies to block disease.

“With this knowledge, it may be possible to identify genes and immune pathways that can be manipulated in patients and at-risk individuals to prevent, or even reverse, the development of autoimmunity,” he concludes.

The research also may make possible the development of more individually-tailored treatments in an era of personalized medicine, he adds.

Co-authors with Sinha are Rama Dey-Rao,PhD, post-doctoral associate and Kristina Seiffert-Sinha, MD, research assistant professor, both of the UB Department of Dermatology.

The research was funded by the Colleck Research Fund, UB’s Behling Dermatology Fund and UB.


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 3,100+ scientific posters on ePosters
  • More than 4,500+ 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 TechnologyNetworks.com 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
Investigational Malaria Vaccine Protects Healthy U.S. Adults
Researchers at NIH have found that the malaria vaccine protected a small number of healthy, malaria-naïve adults in the U.S. from infection for more than one year after immunization.
AACR 2016: Cancer Immunotherapy and Beyond
At this year's meeting there was a palpable buzz around subjects ranging from microbiomics to the tumor microenvironment and cancer vaccines, big data to in vitro and in vivo modeling and drug delivery (to name just a few).
New Database for Sharing MS Clinical Trial Data
A new database containing nearly 2500 patient records from the placebo arms of nine multiple sclerosis (MS) clinical trials is now available for research by qualified investigators.
Study Finds Factors That May Influence Influenza Vaccine Effectiveness
Researchers at NIH have suggested that the long-held approach to predicting seasonal influenza vaccine effectiveness may need to be revisited.
BMS’s Opdivo Clinical Trial Shows Promise
Safety profile of the combination regimen from CheckMate -069 was consistent with previously reported studies and adverse events were managed using established safety algorithms.
Treatment of Common Prostate Cancer
Researchers at UTSW have found that the prostate cancer treatments suppress immune response and may promote relapse.
Cancer Drug Could Treat Blood Vessel Deformities
A drug currently being trialled in cancer patients could also be used to treat an often incurable condition that can cause painful blood vessel overgrowths inside the skin.
Structure of Crucial Enzyme Identified
Researchers at UTSW have determined the atomic structure of an enzyme that plays an essential role in cell division and better treatment of cancer.
New Immunotherapy Trial for Type 1 Diabetes
The search for a treatment for Type 1 diabetes (T1D) - which affects over 400,000 people in the UK – will be stepped up with the start of a new phase one clinical trial at Guy’s Hospital in London.
Recruitment of First Patient in Clinical Study
Company has announced recruitment of first patient in clinical study assessing Visco-ease with Beatson Cancer Centre for the treatment of RIX.
Scroll Up
Scroll Down
SELECTBIO

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
3,100+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,500+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!