University Hospital Bonn, FDNA Expand Rare Disease Program

Nov 07, 2017

GENOME WEB

“The Institute for Genome Statistics and Bioinformatics (IGSB) and Institute of Human Genetics (IHG) at the University of Bonn School of Medicine and the University Hospital Bonn in Germany have partnered with Boston-based FDNA to provide a service combining sequencing and phenotyping to study rare diseases. The partnership expands on a program called Prioritization of Exome Data By Image Analysis, which has been measuring the impact of phenotype and facial analysis data on molecular interpretation. The FDNA technology, Face2Gene, compares patient clinical phenotypes and facial analysis to known disease-causing genetic variants, supporting clinicians as they diagnose patients. Through the expanded partnership, clinicians globally can upload de-identified case information to IGSB for assessment, including facial analysis and genetic testing.”

 

The University Hospital Bonn and FDNA have collaborated to enhance their rare disease program by leveraging advanced medical image analysis technologies. Central to this effort is FDNA’s Face2Gene platform, which uses deep learning to analyze facial photos and identify potential genetic disorders. This partnership aims to improve diagnostic accuracy for rare diseases by incorporating diverse global data, including from underserved populations. By integrating Face2Gene into clinical practice, they seek to streamline the identification process and provide patients with more precise diagnoses and tailored treatments, ultimately advancing the field of medical image analysis in genetics.