|By PR Newswire||
|August 21, 2014 02:28 PM EDT||
SAN FRANCISCO, Aug. 21, 2014 /PRNewswire-USNewswire/ -- Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published online today in Ophthalmology, the journal of the American Academy of Ophthalmology. Using a single test, doctors were able to tailor care specifically to a child's condition based on their mutations, reducing the time and money spent on diagnosis and enabling earlier treatment and genetic counseling.
Each year, between 20,000 and 40,000 children worldwide are born with congenital cataracts, a disease that clouds the lens of the eye and often requires surgery and treatment to prevent blindness. The disease can arise following a maternal infection or be inherited as an isolated abnormality. Congenital cataracts can also appear as a symptom of more than 100 rare diseases, making mutations in the 115 genes associated with congenital cataracts useful as diagnostic markers for the illnesses.
Diagnosing these rare diseases previously proved a lengthy, costly and inconclusive process involving numerous clinical assessments and taking a detailed family history. DNA testing, one gene at a time, would have taken years to complete. Employing new DNA sequencing technology, called targeted next-generation sequencing, researchers at the University of Manchester sped up diagnosis to a matter of weeks by testing for mutations in all 115 known congenital cataracts genes at one time.
In 75 percent of the 36 cases tested, the DNA test determined the exact genetic cause of congenital cataracts. In one case, the DNA test helped diagnose a patient with Warburg Micro syndrome, an extremely rare disease that is marked by an abnormally small head and the development of severe epilepsy, among other medical issues. Having a clear diagnosis allowed for genetic counseling and appropriate care to be delivered quicker than previously possible without the test.
"There are many diseases that involve congenital cataracts but finding the exact reason was always difficult," said Graeme Black, DPhil., professor of genetics and ophthalmology at the University of Manchester and strategic director of the Manchester Centre for Genomic Medicine. "Even with a family history, diagnosing these rare diseases was always a bit of a shot in the dark."
In the course of their work, done in collaboration with Manchester Royal Eye Hospital, researchers also found previously undescribed mutations linked to cataract formation. "There is hope that our work may one day provide more insight into the development and treatment of age-related cataracts, a leading cause of blindness worldwide," said Rachel Gillespie, MSc, lead author of the study who designed and developed the test.
The test was made available to U.K. patients through the country's National Health Service in December 2013. Infants and children who have congenital cataracts can be tested as well as prospective parents with a history of the condition who wish to evaluate the risk to their child. Results generally take about two months. While only available in the U.K., the congenital cataract DNA test can be requested by registered medical facilities through international referral.
As with all genetic testing, the American Academy of Ophthalmology encourages clinicians and patients to consider the benefits as well as the risks. Ophthalmologists who order genetic tests either should provide genetic counseling to their patients themselves, if qualified to do so, or should ensure that counseling is provided by a trained individual, such as a board-certified medical geneticist or genetic counselor. For more information, please see the Academy's recommendations on genetic testing for inherited eye diseases.
Notable studies published in the August 2014 print issue of Ophthalmology include:
Detection of Early Glaucoma via Macular Ganglion Cell Analysis
Can macular ganglion cell analysis (GCA) maps developed with Cirrus high-definition optical coherence tomography be used to detect early glaucoma? Hwang et al. investigated this question and found that while GCA maps were able to detect early glaucoma, this ability was affected by the angular distance between the fovea and retinal nerve fiber layer defect.
Systemic Medication and Intraocular Pressure in a British Population: the EPIC-Norfolk Eye Study
This is the first population-based study to demonstrate and quantify clinically significant differences in intraocular pressure (IOP) among participants using systemic beta blockers or nitrates. Lower IOP observed in participants using statins or aspirin was explained by concurrent systemic beta blocker use.
About the American Academy of Ophthalmology
The American Academy of Ophthalmology, headquartered in San Francisco, is the world's largest association of eye physicians and surgeons, serving more than 32,000 members worldwide. The Academy's mission is to advance the lifelong learning and professional interests of ophthalmologists to ensure that the public can obtain the best possible eye care. For more information, visit www.aao.org.
The Academy is also a leading provider of eye care information to the public. The Academy's EyeSmart® program educates the public about the importance of eye health and empowers them to preserve healthy vision. EyeSmart provides the most trusted and medically accurate information about eye diseases, conditions and injuries. OjosSanos™ is the Spanish-language version of the program. Visit www.geteyesmart.org or www.ojossanos.org to learn more.
Ophthalmology, the official journal of the American Academy of Ophthalmology, publishes original, peer-reviewed, clinically-applicable research. Topics include the results of clinical trials, new diagnostic and surgical techniques, treatment methods, technology assessments, translational science reviews and editorials. For more information, visit www.aaojournal.org.
 Epidemiology of cataract in childhood: a global perspective, J Cataract Refract Surg. 1997;23 Suppl 1:601-4.
SOURCE American Academy of Ophthalmology
Verizon Enterprise Solutions is simplifying the cloud-purchasing experience for its clients, with the launch of Verizon Cloud Marketplace, a key foundational component of the company's robust ecosystem of enterprise-class technologies. The online storefront will initially feature pre-built cloud-based services from AppDynamics, Hitachi Data Systems, Juniper Networks, PfSense and Tervela. Available globally to enterprises using Verizon Cloud, Verizon Cloud Marketplace provides a one-stop shop fo...
Nov. 23, 2014 11:00 AM EST Reads: 1,163
Leysin American School is an exclusive, private boarding school located in Leysin, Switzerland. Leysin selected an OpenStack-powered, private cloud as a service to manage multiple applications and provide development environments for students across the institution. Seeking to meet rigid data sovereignty and data integrity requirements while offering flexible, on-demand cloud resources to users, Leysin identified OpenStack as the clear choice to round out the school's cloud strategy. Additional...
Nov. 23, 2014 08:00 AM EST Reads: 1,299
The major cloud platforms defy a simple, side-by-side analysis. Each of the major IaaS public-cloud platforms offers their own unique strengths and functionality. Options for on-site private cloud are diverse as well, and must be designed and deployed while taking existing legacy architecture and infrastructure into account. Then the reality is that most enterprises are embarking on a hybrid cloud strategy and programs. In this Power Panel at 15th Cloud Expo (http://www.CloudComputingExpo.com...
Nov. 23, 2014 07:45 AM EST Reads: 1,380
We are all here because we are sold on the transformative promise of The Cloud. But what good is all of this ephemeral, on-demand infrastructure if your usage doesn't actually improve the agility and speed of your business? How must Operations adapt in order to avoid stifling your Cloud initiative? In his session at DevOps Summit, Damon Edwards, co-founder and managing partner of the DTO Solutions, will highlight the successful organizational, process, and tooling patterns of high-performing c...
Nov. 23, 2014 02:00 AM EST Reads: 1,066
The definition of IoT is not new, in fact it’s been around for over a decade. What has changed is the public's awareness that the technology we use on a daily basis has caught up on the vision of an always on, always connected world. If you look into the details of what comprises the IoT, you’ll see that it includes everything from cloud computing, Big Data analytics, “Things,” Web communication, applications, network, storage, etc. It is essentially including everything connected online from ha...
Nov. 22, 2014 10:00 PM EST Reads: 1,181
Software-driven innovation is becoming a primary approach to how businesses create and deliver new value to customers. A survey of 400 business and IT executives by the IBM Institute for Business Value showed businesses that are more effective at software delivery are also more profitable than their peers nearly 70 percent of the time (1). DevOps provides a way for businesses to remain competitive, applying lean and agile principles to software development to speed the delivery of software that ...
Nov. 22, 2014 08:00 PM EST Reads: 1,465
Docker offers a new, lightweight approach to application portability. Applications are shipped using a common container format and managed with a high-level API. Their processes run within isolated namespaces that abstract the operating environment independently of the distribution, versions, network setup, and other details of this environment. This "containerization" has often been nicknamed "the new virtualization." But containers are more than lightweight virtual machines. Beyond their small...
Nov. 22, 2014 06:45 PM EST Reads: 1,231
The move in recent years to cloud computing services and architectures has added significant pace to the application development and deployment environment. When enterprise IT can spin up large computing instances in just minutes, developers can also design and deploy in small time frames that were unimaginable a few years ago. The consequent move toward lean, agile, and fast development leads to the need for the development and operations sides to work very closely together. Thus, DevOps become...
Nov. 22, 2014 05:45 PM EST Reads: 1,350
ARMONK, N.Y., Nov. 20, 2014 /PRNewswire/ -- IBM (NYSE: IBM) today announced that it is bringing a greater level of control, security and flexibility to cloud-based application development and delivery with a single-tenant version of Bluemix, IBM's
An entirely new security model is needed for the Internet of Things, or is it? Can we save some old and tested controls for this new and different environment? In his session at @ThingsExpo, New York's at the Javits Center, Davi Ottenheimer, EMC Senior Director of Trust, reviewed hands-on lessons with IoT devices and reveal a new risk balance you might not expect. Davi Ottenheimer, EMC Senior Director of Trust, has more than nineteen years' experience managing global security operations and asse...
Nov. 22, 2014 05:30 PM EST Reads: 1,179
Explosive growth in connected devices. Enormous amounts of data for collection and analysis. Critical use of data for split-second decision making and actionable information. All three are factors in making the Internet of Things a reality. Yet, any one factor would have an IT organization pondering its infrastructure strategy. How should your organization enhance its IT framework to enable an Internet of Things implementation? In his session at Internet of @ThingsExpo, James Kirkland, Chief Ar...
Nov. 21, 2014 09:15 PM EST Reads: 1,296
Technology is enabling a new approach to collecting and using data. This approach, commonly referred to as the "Internet of Things" (IoT), enables businesses to use real-time data from all sorts of things including machines, devices and sensors to make better decisions, improve customer service, and lower the risk in the creation of new revenue opportunities. In his General Session at Internet of @ThingsExpo, Dave Wagstaff, Vice President and Chief Architect at BSQUARE Corporation, discuss the ...
Nov. 21, 2014 08:00 PM EST Reads: 1,365
The security devil is always in the details of the attack: the ones you've endured, the ones you prepare yourself to fend off, and the ones that, you fear, will catch you completely unaware and defenseless. The Internet of Things (IoT) is nothing if not an endless proliferation of details. It's the vision of a world in which continuous Internet connectivity and addressability is embedded into a growing range of human artifacts, into the natural world, and even into our smartphones, appliances, a...
Nov. 21, 2014 08:00 PM EST Reads: 1,311
SYS-CON Media announced today that Aruna Ravichandran, VP of Marketing, Application Performance Management and DevOps at CA Technologies, has joined DevOps Journal’s authors. DevOps Journal is focused on this critical enterprise IT topic in the world of cloud computing. DevOps Journal brings valuable information to DevOps professionals who are transforming the way enterprise IT is done. Aruna's inaugural article "Four Essential Cultural Hacks for DevOps Newbies" discusses how to demonstrate the...
Nov. 21, 2014 07:00 PM EST Reads: 1,281