NEW YORK (GenomeWeb) – 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, or PEDIA, 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, called PEDIA2, clinicians globally can upload de-identified case information to IGSB for assessment, including facial analysis and genetic testing.
"The hope of this program is to unite clinicians worldwide in the pursuit of answers for patients, which they so richly deserve," IGSB head Peter Krawitz said in a statement. "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."