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:4/27/2015)...  Together with its customers, Elekta raised EUR 30,575 ... Barcelona . The funds will be donated ... to improve cancer care, specifically radiation oncology care, around ... patient should be denied potentially life-saving treatment simply because ... hospitals and clinics around the world to take care ...
(Date:4/25/2015)... Join us for a webinar at ... Residence Times using the Transcreener® ADP Assay , ... is increasingly being incorporated into lead development efforts because ... efficacy, increased therapeutic window and reduced side effects. ... methods such surface plasmon resonance, conjugation of drugs can ...
(Date:4/24/2015)... and Tempe, AZ (PRWEB) April 24, 2015 ... and Arizona State University (ASU) have entered into an ... projects. , A memorandum of agreement signed by the ... distance learning, student success and other services particularly, though ... , “We have complementary strengths and a similar ...
(Date:4/24/2015)... 2015 DryLet, LLC a biotechnology ... such as animal waste reduction, bioremediation, wastewater treatment, ... wastewater treatment plants and restaurant kitchen settings, announced ... National Restaurant Association’s NRA Show 2015, in Chicago, ... the company will be available to share information ...
Breaking Biology Technology:Elekta helps raise $33,000 to bring radiation treatment to developing countries 2Elekta helps raise $33,000 to bring radiation treatment to developing countries 3BellBrook Labs Webinar: Analyzing Kinase Inhibitor Residence Times using the Transcreener® ADP Assay 2South Dakota Mines, Arizona State University Pave Way for Cooperative Research 2DryLet to Showcase Bio-React at the National Restaurant Association’s NRA Show 2015 May 16-19, 2015 in Chicago, Illinois 2
... - First publication on utility of PRDT,s prion reduction technology to, ... ... Octaplas(R), - Octapharma ... removal capacity, technical performance and product quality., MONTREAL, ...
... Printed electronics holds possibilities for applications including printed organic solar ... ... flexible displays, ST. LOUIS, June 10 Sigma-Aldrich (Nasdaq:,SIAL) announced ... leading innovator of technology for printed,electronics, to distribute its organic semiconductors ...
... N.J., June 9 Davie Floyd, Director ... Peer Group, an Informed Medical,Communications company, were ... Trainers 37th Annual Conference in Orlando, FL. ... influential dialogue, Floyd and Bresette,presented the topic ...
Cached Biology Technology:ProMetic announces Octapharma publication of PRDT'S prion removal resin in Octaplas(R) manufacturing process at 30th International Congress of the International Society for Blood Transfusion meeting in Macao SAR, China 2ProMetic announces Octapharma publication of PRDT'S prion removal resin in Octaplas(R) manufacturing process at 30th International Congress of the International Society for Blood Transfusion meeting in Macao SAR, China 3ProMetic announces Octapharma publication of PRDT'S prion removal resin in Octaplas(R) manufacturing process at 30th International Congress of the International Society for Blood Transfusion meeting in Macao SAR, China 4ProMetic announces Octapharma publication of PRDT'S prion removal resin in Octaplas(R) manufacturing process at 30th International Congress of the International Society for Blood Transfusion meeting in Macao SAR, China 5ProMetic announces Octapharma publication of PRDT'S prion removal resin in Octaplas(R) manufacturing process at 30th International Congress of the International Society for Blood Transfusion meeting in Macao SAR, China 6Sigma-Aldrich Signs Agreement With Plextronics to Distribute Plexcore(R) Organic Electronics Materials 2Sigma-Aldrich Signs Agreement With Plextronics to Distribute Plexcore(R) Organic Electronics Materials 3Experts From The Peer Group Provide Training on Dialogue-Based Influence at the SPBT Annual Conference 2
(Date:3/31/2015)... 2015   Guidepoint , a leading global research ... Pain Management TRACKER, part of the Guidepoint TRACKER ... the medical device and therapeutics markets. The Post-Surgical Pain ... volumes, market share, and adoption rates across three major ... surgery. The Post-Surgical Pain Management TRACKER will ...
(Date:3/24/2015)...   NexID Biometrics LLC, whose spoof-mitigation technology ... announced the beginning of shipments of version 2.0 of ... company, based in Potsdam, N.Y. , ... which began here today at the Walter E. Washington ... its SDK boosts the accuracy rate range to 96.5 ...
(Date:3/23/2015)... 2015 NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" or ... mobile commerce market, announces its biometric payment technology, the Wocket® ... television starting March 30 th . ... New York markets. ... about our new ad campaign following the recent initial shipment ...
Breaking Biology News(10 mins):Guidepoint Launches Post-Surgical Pain Management TRACKER 2Guidepoint Launches Post-Surgical Pain Management TRACKER 3NexID Begins Shipments Of Version 2.0 Fake-Finger-Detection Solution 2NXT-ID's Wocket Smart Wallet to Launch New CNBC Regional TV Ad Campaign 2NXT-ID's Wocket Smart Wallet to Launch New CNBC Regional TV Ad Campaign 3
... reverse the symptoms of a rare form of muscular ... medical geneticists at Duke University Medical Center. Infants born ... die before they reach the age of two. The ... to muscles may have application in treating other muscular ...
... a new bacteria that is a natural cleanser for ... world, is an inexpensive and highly effective solution to ... be a master engineer,?said Ron Sims, biological and irrigation ... have put these carcinogens in our environment, and nature ...
... the flow of water molecules through the brain can help ... if a patient's tumor will shrink, a new study shows. ... developed the assessment, which they call a functional diffusion map. ... diffusion, or movement, of water through the brain and mapped ...
Cached Biology News:Muscle-targeted gene therapy reverses rare muscular dystrophy in mice 2Muscle-targeted gene therapy reverses rare muscular dystrophy in mice 3Solution to Pollution: New Bacteria Eats Toxic Waste 2Solution to Pollution: New Bacteria Eats Toxic Waste 3New imaging method gives early indication if brain cancer therapy is effective, U-M study shows 2New imaging method gives early indication if brain cancer therapy is effective, U-M study shows 3
Acid phosphatase (Potato). Monospecific by IEP. Some cross reactivity between Acid phosphatases of other species may occur....
... Killer Cell Receptor-P1, clone 1C10 ... Hybridoma produced by the ... mice immunized (BALB/c X C57BL/6)F1 ... and mouse myeloma cellline. ...
Rabbit polyclonal to ZFP200 ( Abpromise for all tested applications). Antigen: Synthetic peptide: CGKSFNHKTNLNKHER (Human) Entrez Gene ID: 7752 Swiss Protein ID: P98182...
Rabbit polyclonal to Leucyl tRNA synthetase ( Abpromise for all tested applications). Antigen: L930-H1176 denatured human recombinant LRS. Entrez Gene ID: 3926 Swiss Protein ID: Q9P2J5...
Biology Products: