Groups Explore Facial Analysis Software for Inherited Disease Diagnosis, Research

Jun 02, 2017

NEW YORK (GenomeWeb) – “A number of research groups have explored how automated facial image analysis technology can help with the differential diagnosis of inherited diseases, including prioritizing exome sequencing variants for analysis and grouping patients with mutations in different genes.

At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented projects that involved automated facial image analysis. Most teams have been collaborating with FDNA, a Boston-based company that has commercialized facial recognition software for clinicians and researchers in genetics. In addition, a team from the University of Oxford in the UK has launched a project, called Minerva & Me, that uses a different facial analysis software.

Researchers at the Institute of Medical Genetics and Human Genetics at Charité University Medicine Berlin have been testing FDNA’s technology in a study called Prioritization of Exome Data by Image Analysis (PEDIA). Last year at ESHG, the group presented early results from that project. “

Related articles

AI in genetic diagnosis

The Evolution of FDNA’s technology: An Interview with Aviram Bar Haim

Analyzing facial features has long been a vital step in diagnosing genetic syndromes. In recent years, AI-driven technologies have transformed this process, making it more efficient and accurate. Leading this innovation is Face2Gene, an advanced AI platform that leverages machine learning to assist clinicians in identifying genetic disorders. To explore the development of this groundbreaking […]

Continue reading
Genetic Research in Africa: An Interview

Genetic Research in Africa: An Interview with Dr. Aime Lumaka

Dr. Aime Lumaka, a distinguished geneticist from the Democratic Republic of Congo, is at the forefront of advancing genetic research across Africa. As a pivotal figure in the Deciphering Developmental Disorders in Africa (DDD-Africa) initiative and the Principal Investigator of the African Rare Diseases Initiative (ARDI), Dr Lumaka is leading efforts to evaluate clinical exome sequencing in […]

Continue reading