Welcome!

News Feed Item

Global Genes Partners With SWAN USA To Help Undiagnosed Rare Disease Patients Seek A Medical Diagnosis Through Free Whole Exome Sequencing Program

Parabase Genomics and the UCLA Clinical Genomics Center Selected as Pilot Partners

ALISO VIEJO, Calif., Feb. 04, 2014 /PRNewswire-USNewswire/ -- Eight years. That's the average amount of time patients wait to receive an official medical diagnosis when facing a rare genetic disease. The stress this medical diagnostic process places on families can be devastating. This year, undiagnosed rare disease patients will receive a gift of hope through an innovative whole genome sequencing pilot program developed and funded by Global Genes in partnership with SWAN USA (Syndromes Without A Name).

The collaborative agreement between Global Genes and SWAN USA will allow undiagnosed rare disease patients who cannot afford costly genomic testing – which can range from $3,500 to more than $5,000 per test - to obtain free clinical genomic sequencing testing to aid in finding the genetic source of their mysterious illnesses.  Boston-based Parabase Genomics and the UCLA Clinical Genomics Center have been selected as the first clinical genomic sequencing providers for the pilot project. 

Starting March 1, 2014, approximately 30 undiagnosed patients will undergo free whole exome sequencing, funded by Global Genes through a donor directed fund launched last September at the 2nd Annual Tribute to Champions of Hope event. With additional funding underway, the program is expected to expand and include more undiagnosed patients.

"We are thrilled to be working with leading genomic sequencing providers on both coasts to help patients in our community find  diagnoses for their rare and genetic diseases," said Andrea Epstein, Executive Director, Global Genes. "We talk to patients, parent advocates and families every day who have had the misfortune of receiving up to three misdiagnoses and are facing diseases that have eluded medical professionals for years due to lack of access to the most cutting edge testing techniques."

Global Genes established a multi-disciplinary committee and a formal Request for Proposal process to select Parabase Genomics and UCLA's Clinical Genomics Center as the initial genomic sequencing partners for the pilot project. This committee reflected a diverse group of rare and genetic disease stakeholders including parent advocates, patient foundation leaders, clinical advisors and Global Genes executives.  The team included Amy Clugston, Founder of SWAN USA, Caroline Loewy, EVP and CFO Tobira Therapeutics and parent advocate, Cristy Spooner, parent advocate, Gary Jackson PhD, Genetics and Technology Consultant, Heather Long, Founder of U.R. Our Hope, Nicole Boice, President, Global Genes and Andrea Epstein, Executive Director, Global Genes.

Global Genes' partner on the project, SWAN USA, is equally enthusiastic about the potential effect on families that this genetic testing will bring.

"Families face an incredible emotional and economic hardship as they struggle to find a proper diagnosis for their loved ones disease," said Amy Clugston, Founder and President, SWAN USA. "To be a part of this innovative program and have the capacity to aid families locate the resources they need is exactly our goal."

Helping to make this technology a reality for undiagnosed patients is Boston-based Parabase Genomics and the UCLA Clinical Genomics Center based in Los Angeles.

"It's our pleasure to join this circle of passionate advocates and experts by providing a timely diagnosis to these deserving patients and their families," said Andy Bhattachariee, PhD, CEO and Scientific Director of Parabase.  "In 2014, we look forward to helping these families, and others, with our LifeTime RareDx Test.  One of the challenges with translation of next-generation sequencing to newborns and children is the long time it takes to get results.  We have developed a complete workflow from blood to a medical report in 2-4 weeks, and our plan is to shorten this timeline to a few days."

The UCLA Clinical Genomics Center also shared their enthusiasm as the West Coast sequencing provider in this new collaborative program. "We are honored and pleased to partner with Global Genes and SWAN USA to accelerate the diagnosis of those affected by rare and genetic diseases," added Dr. Stan Nelson, Professor, Department of Human Genetics, UCLA.

About Global Genes

Global Genes is a leading rare and genetic disease patient advocacy organization.  The organization mission is to 'Eliminate the Challenges of Rare Disease', by equipping patients to become successful advocates, and through education and empowerment, become 'activists' for their disease.  Global Genes does this through a growing portfolio of educational tools and resources, events, building out critical connections and funding innovations in science and technology that will impact patients within their lifetime.  Recognized worldwide by the Blue Denim Genes Ribbon™, Global Genes unites experts, advocates and patients of all ages to stand together in hope for treatments and cures for the estimated 7,000 rare and genetic diseases that impact approximately 30 million Americans and over 250 million people worldwide. For more information about Global Genes™, please visit the following links:

About SWAN USA

SWAN USA is a non-profit tax exempt organization that offers support, information and advice to families of children living with an undiagnosed condition – or a syndrome without a name. The organization offers support, advice and information on the challenges that families face when there is no diagnosis and advocates for changes in the medical community that will benefit undiagnosed individuals.  To learn more about SWAN USA, visit www.undiagnosed-usa.org.

About Parabase Genomics

Parabase Genomics is a privately held molecular diagnostics company focused on changing the way newborns and children with genetic disorders are diagnosed and treated. The Company's LifeTime Tests™ are the first commercially available services that provide a rapid non-invasive method for sample collection and diagnosis of genetic conditions using dried blood spots. This proprietary genetic and informational platform generates actionable information about a newborn's disease profile. Physicians can now avoid delays and adverse consequences by running one single test that is equivalent to several hundred parallel diagnostic tests commonly used today. To learn more, visit http://www.parabasegenomics.com.

About the UCLA Clinical Genomics Center

With expertise in Pediatrics, Human Genetics, and Pathology, the UCLA Clinical Genomics Center provides a comprehensive analysis and diagnostic interpretation of a patient's entire protein-encoding genome by searching through 37 million base pairs in 20,000 genes to potentially locate the single DNA change responsible for the patient's disorder. The Center, part of the David Geffen School of Medicine at UCLA, utilizes next generation sequencing technology, state-of-the-art computational and bioinformatic resources, and integrated laboratory information systems to deliver a precise genetic diagnosis for the benefit of patients and physicians. To learn more, visit: http://pathology.ucla.edu.

SOURCE Global Genes

More Stories By PR Newswire

Copyright © 2007 PR Newswire. All rights reserved. Republication or redistribution of PRNewswire content is expressly prohibited without the prior written consent of PRNewswire. PRNewswire shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon.

Latest Stories
19th Cloud Expo, taking place November 1-3, 2016, at the Santa Clara Convention Center in Santa Clara, CA, will feature technical sessions from a rock star conference faculty and the leading industry players in the world. Cloud computing is now being embraced by a majority of enterprises of all sizes. Yesterday's debate about public vs. private has transformed into the reality of hybrid cloud: a recent survey shows that 74% of enterprises have a hybrid cloud strategy. Meanwhile, 94% of enterpri...
Kubernetes, Docker and containers are changing the world, and how companies are deploying their software and running their infrastructure. With the shift in how applications are built and deployed, new challenges must be solved. In his session at @DevOpsSummit at19th Cloud Expo, Sebastian Scheele, co-founder of Loodse, will discuss the implications of containerized applications/infrastructures and their impact on the enterprise. In a real world example based on Kubernetes, he will show how to ...
Personalization has long been the holy grail of marketing. Simply stated, communicate the most relevant offer to the right person and you will increase sales. To achieve this, you must understand the individual. Consequently, digital marketers developed many ways to gather and leverage customer information to deliver targeted experiences. In his session at @ThingsExpo, Lou Casal, Founder and Principal Consultant at Practicala, discussed how the Internet of Things (IoT) has accelerated our abil...
With so much going on in this space you could be forgiven for thinking you were always working with yesterday’s technologies. So much change, so quickly. What do you do if you have to build a solution from the ground up that is expected to live in the field for at least 5-10 years? This is the challenge we faced when we looked to refresh our existing 10-year-old custom hardware stack to measure the fullness of trash cans and compactors.
Extreme Computing is the ability to leverage highly performant infrastructure and software to accelerate Big Data, machine learning, HPC, and Enterprise applications. High IOPS Storage, low-latency networks, in-memory databases, GPUs and other parallel accelerators are being used to achieve faster results and help businesses make better decisions. In his session at 18th Cloud Expo, Michael O'Neill, Strategic Business Development at NVIDIA, focused on some of the unique ways extreme computing is...
The emerging Internet of Everything creates tremendous new opportunities for customer engagement and business model innovation. However, enterprises must overcome a number of critical challenges to bring these new solutions to market. In his session at @ThingsExpo, Michael Martin, CTO/CIO at nfrastructure, outlined these key challenges and recommended approaches for overcoming them to achieve speed and agility in the design, development and implementation of Internet of Everything solutions wi...
DevOps at Cloud Expo, taking place Nov 1-3, 2016, at the Santa Clara Convention Center in Santa Clara, CA, is co-located with 19th Cloud Expo and will feature technical sessions from a rock star conference faculty and the leading industry players in the world. The widespread success of cloud computing is driving the DevOps revolution in enterprise IT. Now as never before, development teams must communicate and collaborate in a dynamic, 24/7/365 environment. There is no time to wait for long dev...
Cloud computing is being adopted in one form or another by 94% of enterprises today. Tens of billions of new devices are being connected to The Internet of Things. And Big Data is driving this bus. An exponential increase is expected in the amount of information being processed, managed, analyzed, and acted upon by enterprise IT. This amazing is not part of some distant future - it is happening today. One report shows a 650% increase in enterprise data by 2020. Other estimates are even higher....
I wanted to gather all of my Internet of Things (IOT) blogs into a single blog (that I could later use with my University of San Francisco (USF) Big Data “MBA” course). However as I started to pull these blogs together, I realized that my IOT discussion lacked a vision; it lacked an end point towards which an organization could drive their IOT envisioning, proof of value, app dev, data engineering and data science efforts. And I think that the IOT end point is really quite simple…
Aspose.Total for .NET is the most complete package of all file format APIs for .NET as offered by Aspose. It empowers developers to create, edit, render, print and convert between a wide range of popular document formats within any .NET, C#, ASP.NET and VB.NET applications. Aspose compiles all .NET APIs on a daily basis to ensure that it contains the most up to date versions of each of Aspose .NET APIs. If a new .NET API or a new version of existing APIs is released during the subscription peri...
Today we can collect lots and lots of performance data. We build beautiful dashboards and even have fancy query languages to access and transform the data. Still performance data is a secret language only a couple of people understand. The more business becomes digital the more stakeholders are interested in this data including how it relates to business. Some of these people have never used a monitoring tool before. They have a question on their mind like “How is my application doing” but no id...
Identity is in everything and customers are looking to their providers to ensure the security of their identities, transactions and data. With the increased reliance on cloud-based services, service providers must build security and trust into their offerings, adding value to customers and improving the user experience. Making identity, security and privacy easy for customers provides a unique advantage over the competition.
Qosmos has announced new milestones in the detection of encrypted traffic and in protocol signature coverage. Qosmos latest software can accurately classify traffic encrypted with SSL/TLS (e.g., Google, Facebook, WhatsApp), P2P traffic (e.g., BitTorrent, MuTorrent, Vuze), and Skype, while preserving the privacy of communication content. These new classification techniques mean that traffic optimization, policy enforcement, and user experience are largely unaffected by encryption. In respect wit...
Using new techniques of information modeling, indexing, and processing, new cloud-based systems can support cloud-based workloads previously not possible for high-throughput insurance, banking, and case-based applications. In his session at 18th Cloud Expo, John Newton, CTO, Founder and Chairman of Alfresco, described how to scale cloud-based content management repositories to store, manage, and retrieve billions of documents and related information with fast and linear scalability. He addres...
Is the ongoing quest for agility in the data center forcing you to evaluate how to be a part of infrastructure automation efforts? As organizations evolve toward bimodal IT operations, they are embracing new service delivery models and leveraging virtualization to increase infrastructure agility. Therefore, the network must evolve in parallel to become equally agile. Read this essential piece of Gartner research for recommendations on achieving greater agility.