University Hospital Bonn Announces New Technology To Advance Ability to Diagnose Rare Genetic Diseases in Children

The Institute for Genome Statistics and Bioinformatics, IGSB, and the Institute of Human Genetics, IHG, Bonn, have announced a new initiative to further precision medicine through integration with FDNA’s Face2Gene suite of applications. This integration is expected to dramatically increase and transform the diagnostic power of genetic testing in rare diseases, and is the first of its kind in Germany.

In most instances, genetic testing of rare disease patients yields a diagnosis in only 25% of cases. This collaboration will augment genetic testing with facial analysis and artificial intelligence technologies that are expected to increase the diagnostic yield of molecular testing for thousands of rare diseases.

According to Prof. Markus Nöthen, head of the Institute of Human Genetics, rare disease patients are most often young children who, historically, would see an average of seven doctors over seven years before reaching a diagnosis. This odyssey may be considerably shortened when all available clinical data is efficiently transmitted to the diagnostic labs.

Prof. Peter Krawitz, head of IGSB, said, “We are excited to integrate patient clinical data into our genetic interpretation pipeline to help find answers for the patients we serve. We expect Face2Gene’s facial analysis and phenotyping insights to make a significant impact on our molecular interpretation, ensuring University Hospital Bonn continues as a leading genetic services center.”

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.

“We are proud to work with IGSB on a number of clinical, molecular and research activities,” said Dekel Gelbman, CEO, FDNA. “Bonn has proven to be a leader in genetics and rare diseases and we look forward to seeing our work together make a meaningful impact on patients’ lives.”