Posts Tagged “next generation phenotyping”
A new technological breakthrough is using AI and facial analysis to make it easier to diagnose genetic disorders. DeepGestalt is a deep learning technology created by a team of Israeli and American researchers and computer scientists for the FDNA company based in Boston. The company specializes in building AI-based, next-generation phenotyping (NGP) technologies to “capture, structure and analyze complex human physiological data to produce actionable genomic insights.”
Portions of this article were originally reported in NoCamels.com
DeepGestalt uses novel facial analysis to study photographs of faces and help doctors narrow down the possibilities. While some genetic disorders are easy to diagnose based on facial features, with over 7,000 distinct rare diseases affecting some 350 million people globally, according to the World Health Organization, it can also take years – and dozens of doctor’s appointments – to identify a syndrome.
“With today’s workflow, it can mean about six years for a diagnosis. If you have data in the first year, you can improve a child’s life tremendously. It is very frustrating for a family not to know the diagnosis,” Yaron Gurovich, Chief Technology Officer at FDNA and an Israeli expert in computer vision, tells NoCamels. “Even if you don’t have a cure, to know what to expect, to know what you’re dealing with helps you manage tomorrow.”
DeepGestalt — a combination of the words ‘deep’ for deep learning and the German word ‘gestalt’ which is a pattern of physical phenomena — is a novel facial analysis framework that highlights the facial phenotypes of hundreds of diseases and genetic variations.
According to the Rare Disease Day organization, 1 in 20 people will live with a rare disease at some point in their life. And while this number is high, there is no cure for the majority of rare diseases and many go undiagnosed.
“For years, we’ve relied solely on the ability of medical professionals to identify genetically linked disease. We’ve finally reached a reality where this work can be augmented by AI, and we’re on track to continue developing leading AI frameworks using clinical notes, medical images, and video and voice recordings to further enhance phenotyping in the years to come,” Dekel Gelbman, CEO of FDNA, said in a statement.
DeepGestalt’s neural network is trained on a dataset of over 150,000 patients, curated through Face2Gene, a community-driven phenotyping platform. The researchers trained DeepGestalt on 17,000 images and watched as it correctly labeled more than 200 genetic syndromes.
In another test, the artificial intelligence technology sifted through another 502 photographs to identify potential genetic disorders.
DeepGestalt provided the correct answer 91 percent of the time.
Indeed, FDNA, a leader in artificial intelligence and precision medicine, in collaboration with a team of scientists and researchers, published a milestone study earlier this year, entitled “Identifying Facial Phenotypes of Genetic Disorders Using Deep Learning” in the peer-reviewed journal Nature Medicine.