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

the treatment of both conditions in the future.

"As I look back on 25 years of research into Sturge-Weber syndrome, this is a momentous advancement that is thrilling as both an advocate and parent of an affected child," said Karen Ball, Founder, President and CEO of the Sturge-Weber Foundation. "This breakthrough gives renewed hope to my family and thousands of others, and brings new opportunities to increase the pace of scientific discovery for Sturge-Weber."

In revealing that SWS is caused by a somatic mutation, researchers have also confirmed for the first time that Sturge-Weber is not an inherited syndrome a meaningful insight for many parents. "When a child receives a diagnosis of Sturge-Weber, parents are often filled with questions about whether they passed down the condition to their child," said Dr. Comi. "We can now definitively put those fears to rest."


'/>"/>

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:12/24/2014)... According to Ross Selinger, President of ... Global, the national office market continues to be strong, driven ... evidenced by the third quarter’s surprising 3.9% GDP, unemployment decreasing ... costs have held inflation down and the Fed is keeping ... market remaining soft. , This solid economic news is having ...
(Date:12/24/2014)... Dec. 23, 2014 China Biologic Products, ... a leading fully integrated plasma-based biopharmaceutical company in ... its majority-owned subsidiary, Shandong Taibang Biological Products Co. ... from the China Food and Drug Administration (the ... As previously disclosed in the Company,s public filings, ...
(Date:12/24/2014)... , Dec. 23, 2014  NeuroLifeSciences announced today ... in children with attention deficit/hyperactivity disorder published in ... The paper, titled "Pilot Phase 2 ... ( Konofal et al, Drug Des Devel ... shows that mazindol might be an effective, well-tolerated, ...
(Date:12/22/2014)... 2014 GenomeDx Biosciences today announced that a ... a genomic test for prostate cancer, was able to ... by radical prostatectomy without adjuvant therapy. Although rapid metastasis ... using tumor genomics to identify these men who have ... important advance. The study has been published online ...
Breaking Biology Technology:ITRA Global Reports Long Island Is Out of Sync With The National Office Market 2ITRA Global Reports Long Island Is Out of Sync With The National Office Market 3China Biologic Receives GMP Certification for New Coagulation Factor Facility 2China Biologic Receives GMP Certification for New Coagulation Factor Facility 3Redefining ADHD: A New Approach & A Shift of Paradigm in ADHD Therapeutics 2Redefining ADHD: A New Approach & A Shift of Paradigm in ADHD Therapeutics 3Study Published in European Urology Shows that the Decipher Prostate Cancer Classifier is Predictive of Rapid Metastasis in High-Risk Men who have had Prostate Surgery 2Study Published in European Urology Shows that the Decipher Prostate Cancer Classifier is Predictive of Rapid Metastasis in High-Risk Men who have had Prostate Surgery 3
... , , , , , The BioRobot ... designed to meet the needs , of scientists requiring standardized protocols in environments such ... , , ... , , Standardized ...
... , , , , , , ... Welcome to the third of a series of articles providing useful hints for ... cell culture conditions. The series will continue in future issues of QIAGEN , ... , , Media ...
... , , , , , ... , , , , , , ... is a powerful and sensitive technique , used by scientists ... mix and thermal cycling conditions can be adjusted to use almost any DNA , ...
Cached Biology Technology:BioRobot MDx standardize your automated protocols in clinical , laboratories 2BioRobot MDx standardize your automated protocols in clinical , laboratories 3BioRobot MDx standardize your automated protocols in clinical , laboratories 4BioRobot MDx standardize your automated protocols in clinical , laboratories 5The QIAGEN Guide to Animal Cell Culture 2The QIAGEN Guide to Animal Cell Culture 3Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 2Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 3Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 4Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 5Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 6Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 7Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 8Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 9Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 10Using the TripleMaster PCR System for Robust Amplification of , GC-Rich DNA Templates 11
(Date:12/11/2014)... 2014 Research and Markets ... ( http://www.researchandmarkets.com/research/twhjll/biometrics_market ) has announced the addition of ... 2015-2019"  report to their offering. ... advances in technology. With continuous advances in technology, ... the latest standard that meets the needs and ...
(Date:12/10/2014)... Dec. 8, 2014 You,ve been here before: you ... can,t remember your password, site key or the answer to ... first grade teacher? Today, Hoyos Labs ... app that will finally put an end to the frustration ... TM . 1U leverages a user,s smartphone to acquire ...
(Date:12/10/2014)... --Research and Markets ( http://www.researchandmarkets.com/research/xclcvw/biometrics_market ) ... Market in Japan 2014-2018" report to their ... The integration of biometrics and smart ... upgradation of the driver,s license is one of ... the aforementioned projects, biometrics is being used as ...
Breaking Biology News(10 mins):Biometrics Market in the APAC Region 2015-2019: Key Vendors are 3M Cogent, NEC, Safran and Suprema 2The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 2The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 3Biometrics Market in Japan 2014-2018: Key Vendors are DDS, Fujitsu, Hitachi and NEC 2
... seaweed which helps to create a protective physical barrier ... an effective antiviral in the treatment of the common ... against influenza viruses, including the pandemic H1N1 influenza strain. ... viruses, effectively blocking the virus from attaching to cells ...
... in Canada is revealing how plants struggled to endure a ... by a landslide and exquisitely preserved 2 to 8 million ... will respond to global warming. They also suspect that ... Arctic ice continues to melt. As the wood is exposed ...
... Athens, Ga. University of Georgia researchers have ... of pneumonia within minutes, potentially replacing existing tests that ... researchers, whose findings are detailed online in the journal ... atypical or "walking pneumonia," in true clinical samples with ...
Cached Biology News:Ancient forest emerges mummified from the Arctic 2Ancient forest emerges mummified from the Arctic 3UGA researchers develop rapid diagnostic test for common type of pneumonia 2
... AVOID FREEZE/THAW CYCLES. An assay kit ... by Western blotting. PARP is an enzyme ... During apoptosis, PARP is cleaved by caspase-3. ... kDa to 85 kDa is a hallmark ...
... handy dispensers save space and ... hats, and other garb. They ... bins for small parts used ... Clear acrylic. Open-slot design for ...
... is expressed in g per ml and is ... pH 6.8, of a 1 mg per ml ... concentration to agglutinate a 2% suspension of human ... at 25 C. Preparation Note: Affinity ...
... dispensers save space and organize gloves, ... garb. They are the perfect benchtop ... in labs, processing and manufacturing. Clear ... the particles they attract. Open-slot design ...
Biology Products: