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:11/24/2014)... SOUTH SAN FRANCISCO, Calif. , Nov. 24, 2014 /PRNewswire/ ... announced that Bonnie H. Anderson , president and chief ... the Piper Jaffray 26 th Annual Healthcare Conference on ... New York . The live audio ... website at http://investor.veracyte.com . Please connect to the website ...
(Date:11/24/2014)... Nov. 24, 2014  Spherix Incorporated (Nasdaq: ... to the fostering and monetization of intellectual property, ... Telecommunications Ltd.,  Case No. 3:13-cv-03494-M and  Spherix v. ... both in the United States District Court for ... . On November 21, 2014 ...
(Date:11/22/2014)... 21, 2014 Prominent academics, leaders ... gather on December 3rd at Genetic Rx, a ... GeneticRx will take place at the Joseph B. ... will discuss the present and future of genetic ... and gene editing—as well as the treatment of ...
(Date:11/22/2014)... 2014 Respiratory therapy students will ... management of life-like respiratory ailments using the latest ... Grand Rapids-based, Michigan Instruments Inc. developers of the ... the respiratory simulation units to the pro-gram, which ... and Muskegon Community College are collaborating to offer ...
Breaking Biology Technology:Veracyte to Present at the Piper Jaffray 26th Annual Healthcare Conference 2Markman Hearing Held as Scheduled in VTech and Uniden Cases 2Pioneering Academics and Key Industry Leaders to Discuss Rare Diseases and the Emergence of New Genetic Medicines at Genetic Rx on December 3rd 2Michigan Instruments Donates Two Respiratory Simulation Training and Test Lung (TTL) Devices to Grand Valley State University 2Michigan Instruments Donates Two Respiratory Simulation Training and Test Lung (TTL) Devices to Grand Valley State University 3
... ExL Pharma is pleased to announce the,fall ... leading issues that are,impacting the pharmaceutical industry today. ... networking opportunities for Clinical,Marketing, R&D, and Medical Affairs ... technology companies. Listed below are details on ...
... Tools Experience to the Leader in ... Cellular Bioenergetic Profiling, N. ... tools for real-time measurement of cellular,bioenergetics in microplates, announced today ... the company,s Board of,Directors. In this position, Keegan will apply ...
... PhD, Further Strengthens Kendle,s Global ... Regulatory Affairs Organization, ... ), a,leading, global full-service clinical research organization, today,announced that ... Affairs Consultant specializing in providing regulatory affairs,guidance to the ...
Cached Biology Technology:Pfizer, Genentech, Amgen, Bayer, Wyeth, Abbott, Merck and Additional Leading Pharmaceutical Companies Participating During ExL Pharma's Fall Line Up! 2Seahorse Bioscience Appoints Former Molecular Devices Executive Dr. Joseph D. Keegan to Board of Directors 2Kendle Appoints Former MHRA Head of Biologics as Principal Regulatory Affairs Consultant 2Kendle Appoints Former MHRA Head of Biologics as Principal Regulatory Affairs Consultant 3
(Date:11/21/2014)... 20, 2014   Atmel® Corporation (NASDAQ: ... and touch technology solutions, today launched the industry,s first ... the widest V cc range from 1.7V to ... faster I 2 C bus communication speeds, and are ... making them ideal for consumer, industrial, computer, and medical ...
(Date:11/15/2014)... we may still be a few years away from the ... gain instant access to all that ailed his patients, mobile ... for monitoring and measuring our health are cropping up in ... tad Orwellian to some, but a new survey suggests that ... into their healthcare regime. These are some of ...
(Date:11/7/2014)... Nov. 7, 2014  In conjunction with the ... Departments, The Community Foundation of the Verdugos has announced the ... JUSTICE PROJECT," a $250,000 initiative to keep the Verdugo Regional ... its first six months of existence, the Lab has processed ... for local law enforcement. "Because our number one ...
Breaking Biology News(10 mins):Atmel Launches Industry's First Wide-V(cc) Low-Power Temperature Sensor Family 2Atmel Launches Industry's First Wide-V(cc) Low-Power Temperature Sensor Family 3Atmel Launches Industry's First Wide-V(cc) Low-Power Temperature Sensor Family 4Americans May Be Ready for a Brave New World of Healthcare 2Americans May Be Ready for a Brave New World of Healthcare 3Americans May Be Ready for a Brave New World of Healthcare 4Community Foundation Of The Verdugos Unveils Campaign To Fund Glendale-Burbank DNA Justice Project 2
... MARC (Maximizing Access to Research Careers) Program has announced ... Conferences held in July, 2013. These awards are meant ... and scientists into the mainstream of the basic science ... at the FASEB Science Research Conferences. This year MARC ...
... MARC (Maximizing Access to Research Careers) Program has announced ... Study of Reproduction meeting in Montreal, Canada from July ... entry of students, postdoctorates and scientists from underrepresented groups ... to encourage the participation of young scientists at the ...
... 2011 and 2012, research from China,s Nanjing University made ... of genetic material from the plants they,d ingested could ... animals, own genes off. The surprising results from Chen-Yu ... one day be treated with medicinal food, but also ...
Cached Biology News:Hold the medicinal lettuce 2Hold the medicinal lettuce 3
Rabbit polyclonal to BCA1 ( Abpromise for all tested applications). Antigen: Generated using E.coli expressed mouse BCA1. Entrez GeneID: 10563 SWISS Protein ID: O43927...
SH3 Proteins II Sampler Kit 10g each...
Tumor Suppressor Sampler Kit 10 mu g each...
Human peripheral blood eosinophils, For immunohistochemistry (IHC) Cell Chip with Human Peripheral Blood Granulocytes...
Biology Products: