Diagnose Genetic syndromes better

08/11/2017 – The Institute for Genomic Statistics and Bioinformatics (Prof. Peter Krawitz) newly established start in collaboration with the Institute of Human Genetics, a technology partnership with the US company fDNA

University of Bonn presents new technology that geneticists around the world helps to find the genetic cause of rare syndromes

Partnership with US companies fDNA combines gene sequencing with phenotyping the next generation to create the first connection between genes and clinically defined syndromes
November 7, 2017 04:00 AM Eastern Standard Time
BONN, Germany – ( BUSINESS WIRE ) – Worldwide suffering patients at hundreds of rare syndromes with unexplained genetic cause. Determining the underlying genetic alterations opens up possibilities for a whole range of new research and medical interventions. Today Gave Institute for Genomic Statistics and Bioinformatics (IGSB) and the Institute of Human Genetics (IHG) in Bonn a new technology partnership that was created for that very purpose in life.

“This is a unique and pioneering use of facial analysis in precision medicine”

Thanks to a partnership with the Boston-based company fDNA clinicians can upload directly qualifying, anonymised case information for a full assessment by the IGSB in which a facial analysis and genetic testing be included in the world now. Scientists, this helps to clarify the genetic basis of many rare diseases. The program is called PEDIA2 (Prioritization Of Exome Data By Image Analysis) and immediately follows PEDIA that measures the impact of phenotypic and face analysis data on the molecular assessment.

“We hope with this program to bring together clinicians around the world to a common search for answers for patients – answers that so richly deserve these patients,” said Prof. Peter Krawitz, head of IGSB. “The use of a Phänotypisierungslösung the next generation, which also miteinschließt a facial analysis, helping scientists in identifying the genetic variations that manifest clinically and cause these syndromes. This opens up opportunities for other studies of the ways that lead to the disease, and for potential therapies, such as gene therapy. ”

The technology is fDNA Face2Gene and is used by clinical geneticists worldwide for the assessment of syndromes, genes and phenotypes that correlate with clinical and facial analysis of patients. The technology compares the clinical phenotypes and facial analysis with known disease-causing genetic variants and supports clinicians in diagnosis for their patients.

“This is a unique and pioneering use of facial analysis in precision medicine,” says Dekel Gelbman, CEO, fDNA. “IGSB uses the next generation of fDNA Phänotypisierungsansätze to gain a better understanding of the genetic basis of disease. This will impact on the lives of many patients. ”

About the IGSB

The IGSB is a company founded recent Institute of the Medical Faculty of the University of Bonn and the Bonn University Clinic, which works with the Institute of Human Genetics in the field of precision medicine. The IGSB currently also heads the PEDIA study, whose aim is to improve the inclusion of the results of automated image analysis, the exome interpretation. If you want to find out whether your patient is eligible, please call to pkrawitz@uni-bonn.de . For more information, see www.igsb.uni-bonn.de

About the IHG

The IHG Faculty of Medicine, University of Bonn and the Bonn University Clinic provides diagnostic services for a wide range of genetic diseases. For more information, see https://www.humangenetics.uni-bonn.de .

About fDNA and Face2Gene

FDNA has developed Face2Gene, a clinical suite of Phänotypisierungsanwendungen, facilitate comprehensive and accurate assessments. Face2Gene used facial analysis, in-depth learning and artificial intelligence to transform big data into actionable genomic insights that enable to improve and speed of diagnosis and therapy. With the world’s largest network of clinicians, laboratories and scientists who create one of the fastest growing and most complete genomic databases in the world, fDNA changed the lives of patients with rare diseases. For more information, see www.FDNA.com.

The original language in which the original text of this announcement is the official, authoritative version. Translations will be included for a better understanding. Only the language version that was published in the original, is legally valid. Equal to Thus Translations with the original language of publication.


Institute for Genomic Statistics and Bioinformatics
Prof. Dr. med. Dipl. Phys. Peter Krawitz, +49,228,287 14799