FDNA Inc., developer of the Face2Gene suite of phenotyping apps, announced today the successful results of its grant program to use the Face2Gene deep phenotyping and facial analysis technology to support the variant prioritization and analysis of molecular testing of patients with unknown genetic disorders. This announcement was made at the American Society of Human Genetics (ASHG) 2016 in Vancouver, Canada. Through this grant program, CENTOGENE, a worldwide leader in the field of genetic diagnostics for rare hereditary diseases, became the first commercial lab to join FDNA by sponsoring molecular testing for patients with unknown genetic disorders.
After launching the grant program in March 2016, the case was uploaded to Face2Gene’s Unknown Forum and reviewed by an expert review panel (ERP) made up of clinical geneticists that review and share insights and expertise on undiagnosed and challenging cases. The case was identified by expert geneticists from the ERP as a qualified candidate for the grant based on various criteria such as patient’s access to genetic testing and potential medical benefits from exome sequencing. FDNA and CENTOGENE collaborated to offer molecular testing for the patient free of charge. This is the first genetic testing grant awarded to a patient through FDNA’s collaborative grant program.
“We are proud to collaborate with one of the world’s best laboratories in our effort to bring hope to patients and help enable successful diagnoses of rare and ultra-rare genetic disorders,” said Dekel Gelbman, FDNA’s Chief Executive Officer. “Typically, this process can cost thousands of dollars and, for many families, isn’t accessible. Our grant program’s mission will continue to bring a positive impact in the lives of patients living undiagnosed with rare and ultra-rare genetic diseases.”
“Unidentified diseases can create a significant burden on patients and their families, especially when the means to properly diagnose the disease are not within their financial reach,” said Prof. Peter Bauer, COO of CENTOGENE. “It’s an honor for us to join forces with FDNA to help provide these patients with meaningful answers and help to improve their quality of life, while paving the road for proper disease management.”
Individuals and institutions interested in learning more about these grants, or who wish to partner with FDNA in this initiative can contact FDNA at info@FDNA.com, or stop by FDNA booth #1309/CENTOGENE booth #1317 at the American Society of Human Genetics (ASHG) Annual Meeting in Vancouver, October 18-22.
Face2Gene is a suite of phenotyping apps that facilitates comprehensive and precise genetic evaluations, including: CLINIC - a utility that enhances patient evaluation with deep phenotyping; FORUMS – a platform for collaborative case review for diagnostic dilemmas; LIBRARY | LONDON MEDICAL DATABASES – a resource for trusted dysmorphology content; LABS – an API that enables better variant analysis through deep phenotyping; and ACADEMY – an interactive dysmorphology training tool.
For more information, please visit http://www.Face2Gene.com.
FDNA’s mission is to save lives and improve the quality of life of patients with rare or difficult-to-diagnose genetic syndromes. FDNA has developed the Face2Gene suite of phenotyping apps that facilitate comprehensive and precise genetic evaluations.
For more information, please visit http://www.FDNA.com.
CENTOGENE is a worldwide leader in the field of genetic diagnostics for rare hereditary diseases - with the largest test portfolio worldwide. Testing samples from over 100 different countries allows CENTOGENE a unique insight into epidemiological basis of hereditary disorders, which is crucial in the medical result interpretation process. The company is strictly focusing on offering quality molecular genetic diagnostics, underlined by its multiple international accreditations (ISO, CAP, CLIA). CENTOGENE's in depth medical expertise is supported by the application of cutting-edge technologies including next generation sequencing, whole exome sequencing (CentoXome®), whole genome sequencing (CentoGenomeTM) and innovative biomarkers for selected diseases. CENTOGENE has developed a comprehensive mutation database (CentoMD®) that is pivotal to offering high quality diagnostic reporting and medical interpretation; thoroughly interpret each patient's sequence data. With many years’ experience in molecular diagnostics, EXTAN® kits are the result of intensive research and development, offering a validated solution to laboratories worldwide to expand their test portfolio reliably. In addition to diagnostic services for individual patients, CENTOGENE is also a pivotal partner for multiple renowned industrials worldwide. CENTOGENE has affiliations in Germany, India, Canada, Austria, and the United Arab Emirates.
For more information, please visit www.centogene.com and info.centomd.com.
View source version on businesswire.com: http://www.businesswire.com/news/home/20161017005752/en/Business Wire
Last updated on: 17/10/2016
PharmiWeb.com is Europe's leading industry-sponsored portal for the Pharmaceutical sector, providing the latest jobs, news, features and events listings.
The information provided on PharmiWeb.com is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her physician.