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FDNA, MCRI Partner to Improve Speed, Accuracy of Rare Disease Diagnosis

NEW YORK (GenomeWeb) – Boston-based FDNA has partnered with Murdoch Children's Research Institution (MCRI) and the Victorian Clinical Genetics Service to integrate and exclusively distribute MCRI's POSSUMweb database through FDNA's Face2Gene software.

POSSUMweb's database contains 30,000 images, including photos, x-rays, scans, and diagrams. FDNA's Face2Gene software combines facial analysis with other phenotypic traits and variants from genetic tests, such as exome and genome sequencing, in order to identify genetic genetic syndromes.

The database integration will enable clinicians to diagnose patients more quickly by providing information for more than 4,000 genetic syndromes, including multiple malformations, metabolic, teratogenic, chromosomal and skeletal syndromes, FDNA and MCRI said.

"To have such an expansive set of information in the hands of thousands of clinicians across the globe helps us achieve our goal of improving the speed and accuracy of diagnosing genetic malformations and syndromes," MCRI Group Leader Professor Martin Delatycki said in a statement.

Clinicians will have access to pertinent data from POSSUMweb through the Face2Gene application for patient evaluations, and POSSUMweb subscribed users will be able to search for robust POSSUMweb content through the Face2Gene library.     

"Instant reference capabilities will help clinicians greatly shorten the diagnostic journey for patients struggling with undiagnosed genetic diseases," FDNA CEO Dekel Gelbman added.

Specific terms of the partnership were not disclosed.