Global Genes Partners With SWAN USA To Help Undiagnosed Rare Disease Patients Seek A Medical Diagnosis Through Free Whole Exome Sequencing Program
February 5, 2014
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., February 04, 2014 – 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:
- Web: https://globalgenes.org/
- Facebook: https://www.facebook.com/globalgenesproject?ref=br_tf
- Twitter: @GlobalGenes – https://twitter.com/GlobalGenes
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 https://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: https://pathology.ucla.edu.
For inquiries contact: Andrea Epstein, Global Genes
949.248.7273 ext. 108
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