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Press Release

University Hospital Bonn Launches New Technology to Help Geneticists Worldwide Find the Genetic Cause of Rare Syndromes

Posted on: 07 Nov 17

Hundreds of rare syndromes afflict patients around the globe for which the genetic cause has yet to be understood. By identifying the genetics behind the diseases, a whole new breadth of research and medical interventions becomes possible. Today,Institute for Genome Statistics and Bioinformatics, IGSB, and the Institute of Human Genetics, IHG, Bonn, announce a new technology partnership to do just that.

Through a partnership with Boston-based FDNA, clinicians worldwide can now instantly upload qualifying, de-identified case information to IGSB for a full assessment, including facial analysis and genetic testing, helping researchers in discovering the genetics that underlie many rare diseases. The program is called PEDIA2 (Prioritization Of Exome Data By Image Analysis), and comes on the coattails of PEDIA, which is measuring the impact of phenotype and facial analysis data on molecular interpretation.

“The hope of this program is to unite clinicians worldwide in the pursuit of answers for patients, which they so richly deserve,” said Prof. Peter Krawitz, head of IGSB. “The use of next-generation phenotyping, including facial analysis, can help researchers identify the genetic variations that are being clinically manifested and causing these syndromes. This will open up possibilities for other research into disease pathways and potential therapies such as gene therapy.”

FDNA’s technology, Face2Gene, is used by clinical geneticists worldwide to evaluate syndromes, genes and phenotypes that correlate with patients’ facial and clinical analysis. The technology compares patient clinical phenotypes and facial analysis to known disease-causing genetic variants, supporting clinicians as they diagnose their patients.

“This is a unique and groundbreaking use of facial analysis in precision medicine,” said Dekel Gelbman, CEO, FDNA. “IGSB is using FDNA’s next-generation phenotyping approaches to better understand disease genetics. This will make an impact on many patients’ lives.”

About IGSB

The IGSB is a recently founded institute at the University of Bonn School of Medicine and the University Hospital Bonn, that collaborates with the Institute of Human Genetics on precision medicine. The IGSB is also leading the PEDIA study, which aims at improving exome interpretation by including results from automated image analysis. If you would like to discuss whether your patient is eligible, please contact . For more information, visit

About IHG

The IHG at the University of Bonn School of Medicine and the University Hospital Bonn is providing diagnostic services for a wide range of genetic diseases. For more information, visit .

About FDNA and Face2Gene

FDNA is the developer of Face2Gene, a clinical suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. 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, visit .

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Business Wire

Last updated on: 07/11/2017

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