Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Rare Skin Disease Gene Uncovered

Published: Monday, October 15, 2012
Last Updated: Monday, October 15, 2012
Bookmark and Share
A new gene and the way it works has been identified as a factor in a skin disease which affects thousands of people in the UK.

An international research team led by Professor Irwin McLean at the University of Dundee found that the `p34 gene’ played a key role in causing the disease punctate PPK, which gives sufferers dots of hard, thickened skin which can cause pain and discomfort.
 
The results of the research are published in the journal Nature Genetics.
 
“We have not only found this gene but we have been able to figure out how it works, which is very important,” said Professor McLean, who is Professor of Human Genetics in the Centre for Dermatology and Genetic Medicine at Dundee. “When the gene is disrupted or knocked out, the cells in the skin grow too fast and this results in these hard, thick, painful lesions which can be quite debilitating. When the gene is working properly then the skin forms normally.
 
“Knowing about this gene and what it does makes it easier for us to diagnose this form of skin disease and look towards developing new therapies. The pathway where this gene functions is a possible drug target although it will need more work to identify how we can take advantage of that.”
 
Punctate PPK is one of a whole family of PPK skin diseases, each of which are relatively rare. Punctate PPK is estimated to affect around 1 in every 15,000 people in the UK.
 
The gene discovery was made possible by use of next generation sequencing technology, which allows researchers to screen large amounts of genome data in a short space of time.
 
“This is a notable step forward in diagnosing skin diseases and the genetic causes behind them as this is research that we simply could not have done just a few years ago, We are now able to spot faulty genes and track their behaviour far more effectively,” said Professor McLean.
 
“The technology is making a huge difference and it will, in time, help to deliver significant results with benefits for patients with diseases like this one.”
 
The research team involved contributors at the Farhat Hached University Hospital in Tunisia; the University of Cambridge; NHS in Scotland; Our Lady’s Children’s Hospital, Dublin; Trinity College Dublin; Hokkaido University, Japan; Nagoya University Graduate School of Medicine, Japan; Otsu Municipal Hospital, Japan; Hiratsuka Municipal Hospital, Japan; the Institute of Medical Biology, A*STAR, Singapore; St. Thomas’ Hospital, London; King’s College London; and the National University of Singapore.


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 2,500+ scientific posters on ePosters
  • More Than 3,700+ 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.

Related Content

Putting The Brakes On Cancer
DUSP5 shown to suppress tumour formation by switching off ERK.
Monday, December 22, 2014
Sir Philip Cohen Awarded £1.5 Million MRC Grant
University of Dundee researchers to carry out research on the mechanisms that prevent inflammatory and autoimmune diseases.
Tuesday, September 25, 2012
Evolutionary Molecule Identified by Researchers at University of Dundee
Scientists identified a molecule that could play a key role in how cells develop into the building blocks of life.
Tuesday, August 07, 2012
Major Life Sciences Expansion for Dundee
Dundee to further expand with a new £12.5 million centre for translational and interdisciplinary research.
Thursday, July 12, 2012
Dundee Team Provides New Insights into Diabetes Treatment
Scientists to develop more effective ‘second-generation’ medicines in the future.
Wednesday, June 06, 2012
Molecular `On-Off’ Switch Discovered by Dundee Scientists
New molecular switch protects the brain from developing Parkinson’s disease.
Friday, May 25, 2012
Academia-pharma Collaboration Attracts £14.4Million Funding in the UK to Accelerate Drug Discovery
DSTT consortium will provide support of £14.4 million over the four-year period from July 2012 - 2016.
Thursday, May 17, 2012
Grant Allows Installation of X-Ray Diffraction Equipment
The Wellcome Trust has awarded a grant of £800,000 in support of structural biology and drug discovery in the College of Life Sciences at the University of Dundee.
Wednesday, April 25, 2012
Launch of DIRECT - An Innovative Medicines Initiative Project for Personalized Medicine in Diabetes
Academia and the pharmaceutical industry working together in the fight against diabetes.
Thursday, February 23, 2012
Professor Andrew Morris Appointed Scotland's Chief Scientist
Professor Morris is co-Director of the Medical Research Institute at the University of Dundee and an internationally renowned expert in diabetes and health informatics.
Monday, February 13, 2012
Potential New Treatment Identified for Leishmaniasis
Researchers at the University of Dundee have identified fexinidazole as a possible new treatment for the parasitic disease visceral leishmaniasis.
Thursday, February 02, 2012
Dundee Researchers Seek to Beat "Molecular Obesity"
Researchers from the University of Dundee have come up with a new innovative approach in the quest to reduce failure rates in the drug discovery process.
Thursday, January 26, 2012
In Tackling Lead Pollution, Fungi May Be Our Friends
An unexpected discovery by researchers at University of Dundee has found that fungi can transform lead into its most stable mineral form.
Friday, January 13, 2012
New Hi-tech Survey Accelerates Collection of Vaccination Data and Adds to Evidence for Safety of 2009-10 Swine Flu Vaccination
New technology now makes it possible to collect ‘near real time’ data about whether people are having any side effects from vaccination.
Wednesday, November 23, 2011
Researchers Identify Skin Cancer Genes
The genes which contribute to the most frequently occurring life threatening form of skin cancer have been identified for the first time.
Thursday, November 10, 2011
Scientific News
The Changing Tides of the In Vitro Diagnostics Market
With the increasing focus in personalized medicine, diagnostics plays a crucial role in patient monitoring.
LaVision BioTec Reports on the Neuro Research on the Human Brain After Trauma
Company reports on the work of Dr Ali Ertürk from the Institute for Stroke and Dementia Research at LMU Munich.
NIH Study Shows No Benefit of Omega-3 Supplements for Cognitive Decline
Research was published in the Journal of the American Medical Association.
Less May Be More in Slowing Cholera Epidemics
Mathematical model shows more cases may be prevented and more lives saved when using one dose of cholera vaccine instead of recommended two doses.
Investigating the Vape
Expert independent review concludes that e-cigarettes have potential to help smokers quit.
NIH Launches Human RSV Study
Study aims to understand infection in healthy adults to aid development of RSV medicines, vaccines.
Researchers Discover Synthesis of a New Nanomaterial
Interdisciplinary team creates biocomposite for first time using physiological conditions.
Poor Survival Rates in Leukemia Linked to Persistent Genetic Mutations
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
Flu Remedies Help Combat E. coli Bacteria
Physiologists from the University of Zurich have now discovered why the intestinal bacterium Escherichia coli (E. coli) multiplies heavily and has an inflammatory effect.
Marijuana Genome Unraveled
A study by Canadian researchers is providing a clearer picture of the evolutionary history and genetic organization of cannabis, a step that could have agricultural, medical and legal implications for this valuable crop.
Scroll Up
Scroll Down
Skyscraper Banner

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
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!