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.”
