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

October 11, 2017
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 POSSUM web database through FDNA’s Face2Gene software. POSSUM web’s database contains 30,000 images, including photos, x-rays, scans, and diagrams. To identify genetic syndromes, FDNA’s Face2Gene software combines facial analysis with other phenotypic traits and variants from genetic tests, such as exome and genome sequencing. 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.”

The article describes how FDNA and the Murdoch Children’s Research Institute (MCRI) have partnered to enhance the diagnosis of rare diseases, emphasizing improved speed and accuracy. Integrating FDNA’s advanced AI technology with MCRI’s clinical expertise aims to streamline the identification of genetic disorders. This joint effort leverages FDNA’s Face2Gene platform, which uses facial analysis and deep learning to detect phenotypic markers of rare diseases. The partnership seeks to reduce diagnostic timelines and increase precision, benefiting patients with rare conditions by providing quicker, more accurate diagnoses and facilitating tailored treatment plans.

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