Navigation Links
Ambry Genetics and Undiagnosed Diseases Network Team Up to Offer Hope for Patients with Undiagnosed Diseases
Date:1/30/2019

Ambry Genetics, a Konica Minolta Company (Ambry), and leading provider of clinical genetic testing, today announced its collaboration with the Undiagnosed Diseases Network (UDN), a NIH-funded research study dedicated to solving the most challenging medical mysteries using advanced technologies. The goal of this collaboration is to facilitate transition of those with negative or uncertain test results to UDN’s program in hopes of providing answers for patients afflicted with undiagnosed conditions.

Rare diseases affect 25 to 30 million people in the United States; 75% of whom are children. Moreover, 25% of pediatric inpatient admissions are due to these undiagnosed diseases. Despite the many breakthroughs in medical research over the last several years, approximately 30% of those with rare diseases remain undiagnosed. The prolonged diagnostic odyssey places a devastating emotional and physical burden on patients, caregivers and other family members, severely diminishing quality of life for all.

Ambry’s mission is to diagnose and better understand disease, including rare and undiagnosed disorders, through quality exome-based genetic testing. First introduced by Ambry for clinical use in 2011, exome testing is a comprehensive methodology that can detect genetic influences on disease, often when all other tests fail to provide answers.

The initial diagnostic rate using exome testing is effective for approximately 25% of patients. Consistent with their mission, Ambry automatically enrolls all patients who do not reach a diagnosis in their “Findings Answers” program, where the pursuit of a diagnosis continues through gene reclassification, follow-up studies in their translational research lab, family studies, and hundreds of research collaborations across the globe. Further, Ambry has a comprehensive and peer-reviewed system for interpretation of potential novel candidate genes for clinical reporting.

“Our collaboration with UDN really complements our ‘Finding Answers’ Program,” stated Kelly Hagman, MS, CGC, Director, Clinical Genomics, Ambry Genetics, “because it’s another promising avenue to answers that undiagnosed patients and their clinicians so desperately need.”

Kimberly LeBlanc, MS, CGC, Associate Director of Research Operations of the UDN Coordinating Center concurred. “Given our mutual commitment to helping patients afflicted with elusive, undiagnosed conditions, the collaboration between UDN and Ambry makes perfect sense. As partners, we’ll be increasing awareness of specialized resources available to undiagnosed patients.”

About Ambry Genetics
Founded in 1999, Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer comprehensive and high quality genetic testing. Ambry has performed more than one million genetic tests and identified more than 45,000 mutations in at least 500 different genes. As part of the Konica Minolta family, Ambry is responsibly applying new technologies to the clinical molecular diagnostics market to deliver precision medicine. For more information about Ambry Genetics, visit http://www.ambrygen.com

About Undiagnosed Diseases Network (UDN)
The UDN is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. http://www.undiagnosed.hms.harvard.edu

Press Contact: June Fujimoto
press@ambrygen.com
949.457.4407

Read the full story at https://www.prweb.com/releases/ambry_genetics_and_undiagnosed_diseases_network_team_up_to_offer_hope_for_patients_with_undiagnosed_diseases/prweb16067927.htm.


'/>"/>
Source: PRWeb
Copyright©2019 Vocus, Inc.
All rights reserved


Related medicine technology :

1. Gene By Gene Rejects BRCA1/2 Patent Infringement Claims by Myriad and Joins Ambry Genetics to Sue Myriad for Violating Federal Antitrust Laws
2. Ambry Genetics Unveils Its Super Lab, One of the Largest, Most State-of-the-Art Commercial Laboratories in the World
3. Atossa Genetics to Present at the Second Annual Marcum LLP MicroCap Conference
4. NewLink Genetics Presents Positive Phase 2 Data on Novel Immunotherapy, Tergenpumatucel-L, in Non-Small Cell Lung Cancer at the ASCO 2013 Annual Meeting
5. NewLink Genetics Presents Results from Two Phase 1 Studies with Immunotherapy Agent, Indoximod, at the ASCO 2013 Annual Meeting
6. A Finnish Company Enters International Markets With World Class Genetics Technology
7. Sharp Edge Labs and SpectraGenetics Sign Agreement to Provide Better Assays for Studying G-Protein Coupled Receptors
8. Potential Acquisitions and Stock Price Updates - Research Report on BioMarin, Covidien, United Therapeutics, Brookdale, and Seattle Genetics
9. Sophia Genetics Becomes the First European Company to Obtain CE-IVD Mark for Clinical use of Next Generation Sequencing Bioinformatics Pipeline for Routine Genetic Testing
10. Sophia Genetics Announces First Deal With Britains NHS and Leading Turkish Laboratory, Expanding European Customer Base
11. Sophia Genetics gibt ersten Vertrag mit dem britischen NHS und einem führenden türkischen Labor bekannt und erweitert seinen europäischen Kundenstamm
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/19/2019)... ... April 18, 2019 , ... CBD Hacker , the ... 4/20 weekend 2019 . The list contains the best sales from brands that CBD ... companies will offer deep discounts on popular items. And CBD Hacker has also partnered ...
(Date:4/18/2019)... ... April 18, 2019 , ... MedMen – ... law and leading world class retail locations – has partnered with Buxton to identify ... Canada. Buxton’s customer analytics and site scoring tools will allow MedMen to identify their ...
(Date:4/18/2019)... PRINCETON, N.J. (PRWEB) , ... April 18, 2019 ... ... expertise to assist the life science industry in advancing the development of medical ... nonalcoholic fatty liver disease (NAFLD) and its more advanced form, nonalcoholic steatohepatitis (NASH), ...
Breaking Medicine Technology:
(Date:4/19/2019)... DECATUR, Ill. (PRWEB) , ... ... ... Administrator (TPA) Consociate Health has developed a reputation for building strategic partnerships ... Today, the company announced an aggressive team expansion to deliver healthcare administrative ...
(Date:4/19/2019)... ANGELES (PRWEB) , ... April 18, 2019 , ... Residents ... those treated by outside physicians. This is according to a study of ... (LAJH) under the auspices of the Brandman Research Institute (BRI) . The quality ...
(Date:4/19/2019)... ... April 19, 2019 , ... ... Advocate Manager, The University of Vermont Health Network-CVPH, Plattsburgh, NY with the 2019 ... field of patient advocacy and to fellow patient advocates. Doyle was honored with ...
(Date:4/18/2019)... ... , ... Swiss Pet company PerAnimal launches a new unique pet ... human and animal while improving the overall wellness of pet companions. , All PerAnimal ... experience. They are made by hand from organic Swiss herbal condensate and Swiss Alpine ...
(Date:4/18/2019)... , ... April 18, 2019 , ... ... practice in Beverly Hills that offers a full menu of cosmetic and general ... and sought-after expertise in biomimetic dentistry, which relies on minimally-invasive techniques in restorative ...
Breaking Medicine News(10 mins):