KBG Foundation Partners with FDNA to Help Children with Rare Genetic Diseases

Collaboration Leads to a Growing Number of KBG Syndrome Diagnoses

September 07, 2017 10:11 AM Eastern Daylight Time

Today, KBG Foundation announces its partnership with Boston-based FDNA to accelerate precision medicine and grow the number of confirmed KBG global cases. Clinicians working with the KBG Foundation helped to train FDNA’s facial analysis technology, Face2Gene, to better recognize the clinical signs of KBG Syndrome in patients. The results from this work are now being made available to experts globally to better diagnose and treat patients suffering from KBG.

KBG Syndrome is a rare disease caused by a mutation in the ANKRD11 gene, resulting in distinctive facial features and developmental delays. As of 2013 there were 60 confirmed cases of KBG worldwide; however with its collaboration with FDNA, the KBG Foundation has seen an increase in syndrome cases, reaching 200 (currently submitting to the IRB). The typical diagnostic journey for this and other rare diseases often takes years, but with Face2Gene’s deep learning technology, signs of the disorder can be pinpointed within minutes.

“KBG patients typically receive a general developmental delay diagnosis, but getting an accurate, early diagnosis can lead to better therapy paths and educational services,” said Annette Maughan, Co-Founder and CEO of KBG Foundation. “We’re thrilled to be able to better diagnose these patients without a lengthy diagnostic journey with the help of FDNA’s advanced technology. It’s an important step forward in improving the quality of life and helping those that have gone undiagnosed until now.”

While there are currently no drug treatments available for those with KBG Syndrome, through this effort both KBG Foundation and FDNA are opening the door for orphan drug development. Clinicians across the globe have banded together to assemble enough data, expertise and understanding to make moving forward on development a real possibility. The earlier the diagnosis, the greater treatment potential these patients will have for a lessened developmental deficit.

“Through this collaboration with KBG Foundation, clinicians can use Face2Gene free of charge to better recognize the signs and genetics of patients with rare diseases like KBG,” said Dekel Gelbman, CEO of FDNA. “By embedding our technology with the physician at the moment of diagnosis, we will reduce the stress of the diagnostic journey for KBG patients moving forward.”


About KBG Foundation
Founded in 2015, the KBG Foundation is an affiliate of the Epilepsy Associate of Utah, dedicated to providing support, assisting in research programs, raising awareness and advocating for all those affected by KBG Syndrome. For more information, please visit www.kbgfoundation.com.

About Face2Gene and FDNA
Face2Gene is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. FDNA, developer of Face2Gene, 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. For more information, please visit www.FDNA.com.


Media Contacts

KBG Foundation

Annette Maughan, 801-566-5949
Blair Curzi, 617-248-0680

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The KBG Awareness Ribbon is free to use for web and print, proper attribution to the KBG Foundation is requested. To download: right click and use the save as option. Contact the KBG Foundation for other graphic options.

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