AI Can Identify Rare Genetic Disorders by the Shape of Someone’s Face

January 7, 2019

New Scientist

“People with genetic syndromes sometimes have telltale facial features, but using them to make a quick and cheap diagnosis can be tricky given there are hundreds of possible conditions they may have. A new neural network that analyses photographs of faces can help doctors narrow down the possibilities. FDNA in Boston and his team built a neural network to look at the gestalt – or overall impression – of faces and return a list of the 10 genetic syndromes a person is most likely to have.”

 

People with genetic syndromes often exhibit distinctive facial features, but diagnosing these conditions quickly and cost-effectively can be challenging due to the vast number of potential disorders. A new neural network developed by FDNA in Boston addresses this by analyzing photographs of faces to assist doctors in narrowing down diagnostic possibilities. This AI-driven tool evaluates the gestalt, or overall impression, of facial features and generates a list of the ten most likely genetic syndromes. This advanced technology offers a significant aid in streamlining and enhancing the accuracy of genetic disorder diagnoses, improving patient care outcomes.

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