Navigation Links
Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope
Date:5/10/2013

(Baltimore, MD) In new findings published on May 8, 2013 in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause a genetic mutation that occurs before birth of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.

"This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks," said co-senior study author, Anne Comi, M.D., Director of the Kennedy Krieger Institute's Hunter Nelson Sturge-Weber Center. "Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time."

Sturge-Weber syndrome is a neurological and skin disorder associated with port-wine birthmarks on the face, glaucoma, seizures, intellectual impairment and weakness on one or both sides of the body. Current treatment options for children with SWS are limited, but include medications to reduce the likelihood of seizures and stroke-like episodes, eye drops and/or surgery to manage glaucoma, and physical rehabilitation.

Port-wine stain birthmarks are caused by abnormally dilated capillaries in the skin, which produce reddish to purplish discoloration. While a facial port-wine birthmark can be associated with SWS, they occur commonly in otherwise healthy individuals. Physicians may perform several painful laser treatments to attempt to remove the port-wine birthmark in infant children, but it often reoccurs.

"This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks," said Jonathan Pevsner, Ph.D., Director of Bioinformatics at Kennedy Krieg
'/>"/>

Contact: Megan Lustig
mlustig@spectrumscience.com
202-955-6222
Kennedy Krieger Institute
Source:Eurekalert

Page: 1 2 3

Related biology technology :

1. Discovery Labs Prices $14.25 Million Public Offering of Common Stock
2. Adaptive Biotechnologies Signs Biomarker Discovery Collaboration Agreement with Bristol-Myers Squibb
3. Predictive Biomarker Discovery for Oncology Small-Molecules and Biologics - a Webinar Hosted by Xtalks
4. Partnership between EBSCO Publishing and BioOne Online Journals Adds Scholarly Biological, Ecological and Environment Sciences Articles to EBSCO Discovery Serviceā„¢
5. Discovery of Circulating Protein Biomarkers by Analysis of the Tissue Secretome, New Life Science Webinar Hosted by Xtalks
6. Averica Discovery Services and Worcester Polytechnic Institute Establish Research Collaboration
7. Heptares Achieves All Research Milestones and Receives Milestone Payment From GPCR Drug Discovery Agreement With Takeda
8. UNL teams discovery yields supertough, strong nanofibers
9. Discovery paves the way for ultra fast high resolution imaging in real time
10. Probiotic Action Announces the Discovery of Four New Foods Claiming to Have Probiotic Benefits
11. ChanTest Announces Their Second User Meeting: Partnerships in Drug Discovery
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/22/2014)...   Synthetic Biologics, Inc. (NYSE MKT: SYN), ... infections and diseases, announced today that the U.S. Patent ... for a composition of matter patent application that covers ... SYN-004. This is Synthetic Biologics, first allowed patent application ... to the Company,s extensive C. difficile patent ...
(Date:10/22/2014)... KONG , Oct. 22, 2014  aTyr Pharma ... that rare disease expert John C. McKew , ... McKew brings more than two decades of expertise in ... Institutes of Health, Wyeth Research and Genetics Institute, Inc. ... aTyr,s efforts to expand and translate its novel Physiocrine ...
(Date:10/20/2014)... 2014 Asterias Biotherapeutics, Inc. (NYSE MKT: ... a Notice of Grant Award (NGA) with the ... 1, 2014.  The NGA provides for the immediate ... of additional grant funds pursuant to the previously ... development of Asterias, product, AST-OPC1. The grant provides ...
(Date:10/20/2014)... Oct. 20, 2014 PureTech , a ... big healthcare problems, announced today the closing of ... participation from Invesco Perpetual, a $120 Billion group ... drive PureTech,s existing pipeline forward and to advance ... the scientific creativity to really go for the ...
Breaking Biology Technology:Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 2Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 3Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 4aTyr Pharma Appoints John C. McKew, Ph.D., as Vice President, Research 2aTyr Pharma Appoints John C. McKew, Ph.D., as Vice President, Research 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 2Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 3Asterias Biotherapeutics Announces Notice of Grant Award with CIRM for Phase 1/2a Clinical Trial of AST-OPC1 in Complete Cervical Spinal Cord Injury 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6
... ... technology are highlighted at leading industry events. , ... Washington, DC (PRWEB) June 11, 2010 -- Open source software will be ... DIA Annual Meeting is the premier event for professionals involved in the discovery, ...
... June 11 /PRNewswire-Asia-FirstCall/ -- China-Biotics, Inc.,(Nasdaq: CHBT ) ... products in China , today reported,its financial results for the ... , , 4Q10 Financial Highlights, ... year-over-year increase;, ...
... ... of the evolution of the influenza virus and its human host, post-graduate student Stephen Huff ... of safe, free software downloads - best of all, the service is free. , ... (PRWEB) June 5, 2010 -- We ...
Cached Biology Technology:Open Source Clinical Trials Software Featured at the 46th DIA Annual Meeting 2Open Source Clinical Trials Software Featured at the 46th DIA Annual Meeting 3China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 2China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 3China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 4China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 5China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 6China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 7China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 8China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 9China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 10China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 11China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 12China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 13China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 14China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 15China-Biotics, Inc. Reports Record Quarterly and Annual Revenue Growth for Fiscal Year 2010 16Computational Microbiologist Uses His Expertise with Deadly Viruses to Devise a Superior System for Delivery of Safe, Free Software Downloads 2Computational Microbiologist Uses His Expertise with Deadly Viruses to Devise a Superior System for Delivery of Safe, Free Software Downloads 3Computational Microbiologist Uses His Expertise with Deadly Viruses to Devise a Superior System for Delivery of Safe, Free Software Downloads 4
(Date:10/19/2014)... access in India over the last 30 years ... emissions growth during that time, according to a ... Climate Change ., "Energy access is fundamental to ... life, including education, communication, and health," says IIASA ... While increased energy access is widely agreed to ...
(Date:10/18/2014)... patients referred for evaluation of suspected genetic conditions, ... 25 percent, including detection of a number of ... disease, according to a study appearing in ... coincide with the American Society of Human Genetics ... or coding regions of thousands of genes simultaneously ...
(Date:10/17/2014)... – Accurate knowledge regarding Ebola is critical and pertinent ... of hazardous global outbreak and epidemic. The Journal, ... a special issue, Ebola Virus and Public Health, to ... knowledge in this critical societal moment. , On ... Ebola for Clinicians . The primer was prepared by ...
Breaking Biology News(10 mins):Improved electricity access has little impact on climate change 2Whole-exome sequencing shows potential as diagnostic tool 2
... Director of Genomic Technologies, Dr Yijun RUAN, led a ... how genes interact/communicate and influence each other, even when ... discovery is crucial in understanding how human genes work ... and coordination takes place in human cells. The ...
... Spotted salamanders exposed to contaminated roadside ponds are ... paper in Scientific Reports. This study provides the first ... negative effects of roads apparently by evolving rapidly. ... a host of contaminants from road runoff. Chief among ...
... The first study to check the effects of eating ... small helpings of purple potatoes (Purple Majesty) a day decreases ... In a report in the ACS, Journal of Agricultural ... seemingly small, is sufficient to potentially reduce the risk of ...
Cached Biology News:Singapore scientists lead in 3D mapping of human genome to help understand human diseases 2Road runoff spurring spotted salamander evolution 2
This buffer is Specifically formulated to be used with Endogen's Poly-HRP Streptavidin...
... Microarray Gene Frame® has been specifically ... frames feature the same dual strength ... Frame® range for easy removal after ... and there are three sizes available. ...
For microscopy...
... slide processing offering reproducibility, reliability and ... miniaturization, automation and massive parallel analysis ... with many applications in both industrial ... from gene expression profiling, gene regulation ...
Biology Products: