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FDNA Expands Facial Analysis Reach to 2,000 Syndromes


FDNA (www.FDNA.com), a Boston-based digital health company and developer of the Face2Gene suite of applications, is pleased to announce 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 data is used to recognize associations between facial characteristics and these genetic diseases. This milestone marks a major achievement for a company devoted to ending the lengthy diagnostic journey that accompanies rare diseases.

Founded in 2011, FDNA is committed to helping clinicians, labs, and researchers diagnose, treat, and create therapies for these diseases. 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 (a process that often takes months or years), and pharmaceutical companies in their development of new therapies.

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.

Approximately 30 million Americans suffer from rare genetic diseases—twice the number of those living with a cancer diagnosis—making the need for precision medicine more relevant than ever. But, with recent federal budget cuts hindering efforts by research organizations like the National Institutes of Health (NIH), responsibility falls more heavily on the private health sector.

“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.

For more information, visit www.FDNA.com.

About Face2Gene and FDNA
FDNA is the developer of Face2Gene, a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA uses facial analysis, deep learning and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs and researchers creating one of the fastest growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients.

Face2Gene is a search and reference tool provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.

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