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Posted on May 04, 2017

Facial analysis can reveal rare diseases

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Globally about 350 million people have one of over 7,000 known rare diseases. The journey to a diagnosis for these children averages seven years from symptoms to diagnosis, in which time they see an average of seven doctors. The emotional and financial burden to families is devastating, negatively impacting the child's prognosis and quality of life.
 
Through innovation, Boston based FDNA is paving the way for clinicians to diagnose these diseases earlier, for labs to interpret genetic information more accurately and for life science researchers to make new discoveries to help develop rare disease therapies.
 
FDNA use advanced technologies, including computer vision, deep learning and artificial intelligence to analyze patient symptoms, features and genomic data in a network of thousands of genetics professionals worldwide, delivering scientific insights to improve and accelerate diagnostics and therapeutics, changing the lives of children with rare diseases.
 
FDNA's story begins in 2011 when their founder sold his technology of tagging facial photos to Facebook. With a desire to have a profound impact on people's lives, FDNA worked with the healthcare community to identify the "next big thing." All signs were pointing at genetics as having the potential to make that impact, which solidified after meeting with the families and the children facing these rare diseases first-hand. Using our technology, FDNA's goal is eliminating the diagnostic odyssey of hundreds of millions of patients around the world.
 
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FDNA's Face2Gene application helps quickly evaluate patients' clinical signs by using artificial intelligence to analyze patient photos and clinical symptoms. Within seconds, FDNA's technology compares the photo and clinical information to its global database of over 10,000 syndromes of detailed phenotypic and genomic data, and quickly narrows the list of possible rare diseases. These advanced technologies can help both clinicians, as it accelerates the diagnostic process and pharmaceutical companies in their development of new therapies.
 
FDNA has announced that its facial analysis technology has analyzed facial images of tens of thousands of patients for more than 2,000 different rare genetic diseases. This milestone marks a major achievement for a company devoted to ending the lengthy diagnostic journey that accompanies rare diseases.
 
Dekel Gelbman, CEO of FDNA, is thrilled with this momentum and continued support from healthcare professionals worldwide. "There is a lot of unknown when faced with a rare genetic disease and our technologies help bring some answers to those families on a diagnostic journey. Reaching this milestone is a huge step in uncovering more about the unmet needs of the rare disease community," said Gelbman.
 
"Now, more than ever, it's up to companies like ours to continue this vital research to help identify new syndromes and treatments," said Gelbman. "This achievement, in gathering image data associated with more than 2,000 rare genetic diseases from 129 countries, is just the start for FDNA. Our goal is to continue to improve precision medicine through facial analysis and artificial intelligence in our fight against rare disease."
 
Face2Gene: How it Works
Face2Gene uses artificial intelligence and smart phenotyping technology, such as facial analysis, that extracts de-identified data from a photo and compares them to a database of hundreds of thousands of similar data points from real-world, diagnosed cases. The result is a list of comprehensive phenotypic and genetic information with associated syndromes that supports clinical evaluations, analysis and interpretation of genetic testing.
 
Source and top image: FDNA