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 Service™
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:7/6/2015)... DUBLIN , June 29, 2015 ... ) has announced the addition of the ... offering. Biotechnology for the Non-Biotechnologist, ideal ... basic theory, principles, techniques and potential of biotechnology. ... to understand the basic theory, principles, techniques, and ...
(Date:7/5/2015)... ... 06, 2015 , ... For many years, metal-on-quartz filters were the industry standard ... as a Varian Cary 4000-7000, a Perkin Elmer 800-1100 or a Shimadzu 3600-3700, these ... used them for their SRM-2031 series going back for many years. Unfortunately, these standards ...
(Date:7/3/2015)... ... ... global failure analysis market is expected to reach $7,147.0 million by 2020, at a ... at the highest CAGR of 8.46%; its growth is expected to be driven by ... for root cause analysis of failure. The market based on the geographic regions has ...
(Date:7/3/2015)... 3, 2015 Forskere ... 2015 på  http://www.openinnovationinscience.at om efteruddannelsesprogrammet "Lab ... sted i Wien .  ... internationale forskere og videnskabsmænd foretaget af Ludwig ... udfordringer for sundhedsvidenskaben manglen på incitamenter til ...
Breaking Biology Technology:FireflySci Simplifies the Calibration of UV Spectrophotometers with FUV Photometric Accuracy Standards 2FireflySci Simplifies the Calibration of UV Spectrophotometers with FUV Photometric Accuracy Standards 3Failure Analysis Market to Grow at 7.52% CAGR to 2020 2Failure Analysis Market to Grow at 7.52% CAGR to 2020 3Failure Analysis Market to Grow at 7.52% CAGR to 2020 4Failure Analysis Market to Grow at 7.52% CAGR to 2020 5Lancering af verdens første åbne innovationsprogram til uddannelse af forskere 2Lancering af verdens første åbne innovationsprogram til uddannelse af forskere 3
... Amnis Corporation and Gene Company, Ltd.,announced today ... Company,will sell and service the Amnis ImageStream(R) system ... Hong Kong, Shanghai,Beijing and Guangzhou now have access ... extremely pleased to have begun what we expect ...
... and Company) (NYSE: BDX ), a global medical technology company,announced ... Bank of America 2008 Healthcare Conference ... Bernstein 24th Annual Strategic Decisions Conference 2008 ... A live webcast of BD,s presentations can be accessed from the ...
... May 7 /PRNewswire-FirstCall/ Varian, Inc. (NasdaqGS:,VARI) announced that ... Glover,as a new director. Glover is the seventh ... appointed for a term expiring at the annual ... is Senior Vice President, Operations and Chief Financial ...
Cached Biology Technology:Amnis and Gene Company, Ltd. Announce Agreement to Market ImageStream Technology in China 2James T. Glover Appointed to Board of Directors of Varian, Inc. 2
(Date:6/25/2015)... 2015  Imagine a tool specifically designed to help ... life. That,s exactly what USANA,s True Health Assessment ... portable health program provides a personalized approached to measuring ... your lifestyle and nutrition. At the ... night, USANA,s THA was honored with the Industry Innovation ...
(Date:6/24/2015)... , June 24, 2015  Synaptics Inc. (NASDAQ: ... interface solutions, today announced that Sharp has selected ... secure authentication for its latest flagship smartphone device, ... than 200 million shipments of its fingerprint ID ... Synaptics, strength, scalability and leadership in the biometrics ...
(Date:6/23/2015)... DUBLIN , June 22, 2015 ... has announced the addition of the "Body-Worn ... Share, Growth, Trends and Forecast 2014 - 2020" ... report offers strategic analysis of the global body-worn ... market has been segmented on the basis of ...
Breaking Biology News(10 mins):@USANAinc's Personalized Nutrition Program Wins Industry Innovation Award 2Synaptics Brings Natural ID Technology to Sharp's Newest Flagship Smartphone 2Body-Worn Temperature Sensors Market - Global Industry Analysis 2
... in behaviour among the population have accelerated the recent decline ... in Science shows how there has been an almost 50 ... researchers attribute to people delaying when they first have sex ... fell most steeply at young ages, with a drop in ...
... one of the oldest healing remedies known to medicine, ... A review article in the most recent issue of ... the data. , Scientists performed 22 trials involving 2,062 ... 16 trials that were performed on experimental animals. Honey ...
... created in this cool movie , ,Scientists ... created polymer nanotubes that are unusually long (about 1 centimeter) ... Described in a new paper in Proceedings of the National ... as channels for tiny volumes of chemicals in nanofluidic reactor ...
Cached Biology News:HIV decline in Zimbabwe linked to behavioural change 2Stable polymer nanotubes may have a biotech future 2
Umbilical cord blood mesenchymal stem cells, For immunohistochemistry (IHC) Cell Chip with Human Umbilical Cord Blood Progenitor Cells...
Human peripheral blood CD19+ B cells, For immunohistochemistry (IHC) Cell Chip with Human Peripheral Blood Monocytes, B Cells, NK Cells and Stem Cells...
Umbilical cord blood CD14+ Monocytes, For immunohistochemistry (IHC) Cell Chip with Human Umbilical Cord Blood Monocytes, B Cells and NK Cells...
Umbilical cord blood basophils, For immunohistochemistry (IHC)...
Biology Products: