Researchers at the University of Bonn show that using portrait photos in combination with genetic and patient data improves diagnoses
Every year, around half a million children worldwide are born with a rare hereditary disease. Obtaining a definitive diagnosis can be difficult and time consuming. In a study of 679 patients with 105 different rare diseases, scientists from the University of Bonn and the Charité – Universitätsmedizin Berlin have shown that artificial intelligence can be used to diagnose rare diseases more efficiently and reliably. A neural network automatically combines portrait photos with genetic and patient data. The results are now presented in the journal “Genetics in Medicine”.
Many patients with rare diseases go through lengthy trials and tribulations until they are correctly diagnosed. “This results in a loss of valuable time that is actually needed for early therapy in order to avert progressive damage,” explains Prof. Dr. med. Dipl. Phys. Peter Krawitz from the Institute for Genomic Statistics and Bioinformatics at the University Hospital Bonn (UKB). Together with an international team of researchers, he demonstrates how artificial intelligence can be used to make comparatively quick and reliable diagnoses in facial analysis.
The researchers used data of 679 patients with 105 different diseases caused by the change in a single gene. These include, for example, mucopolysaccharidosis (MPS), which leads to bone deformation, learning difficulties and stunted growth. Mabry syndrome also results in intellectual disability. All these diseases have in common that the facial features of those affected show abnormalities. This is particularly characteristic, for example, of Kabuki syndrome, which is reminiscent of the make-up of a traditional Japanese form of theatre. The eyebrows are arched, the eye-distance is wide and the spaces between the eyelids are long.
The used software can automatically detect these characteristic features from a photo. Together with the clinical symptoms of the patients and genetic data, it is possible to calculate with high accuracy which disease is most likely to be involved. The AI and digital health company FDNA has developed the neural network DeepGestalt, which the researchers use as a tool of artificial intelligence for their study. “PEDIA is a unique example of next-generation phenotyping technologies,” said Dekel Gelbman, CEO of FDNA. “Integrating an advanced AI and facial analysis framework such as DeepGestalt into the variant analysis workflow will result in a new paradigm for superior genetic testing”.
Researchers train the neural network with 30,000 images
The scientists trained this computer program with around 30,000 portrait pictures of people affected by rare syndromal diseases. “In combination with facial analysis, it is possible to filter out the decisive genetic factors and prioritize genes,” says Krawitz. “Merging data in the neuronal network reduces data analysis time and leads to a higher rate of diagnosis.”
The head of the Institute of Genomic Statistics and Bioinformatics at the UKB has been working with FDNA for some time. “This is of great scientific interest to us and also enables us to find a cause in some unsolved cases,” said Krawitz. Many patients are currently still looking for an explanation for their symptoms.
The study is a team effort between computer science and medicine. This can also be seen in the shared first authorship of the computer scientist Tzung-Chien Hsieh, doctoral student at the institute of Professor Krawitz, and Dr. Martin Atta Mensah, physician at the Institute of Medical Genetics and Human Genetics of the Charité and Fellow of the Clinician Scientist Program of the Charité and Berlin Institute of Health (BIH). Prof. Dr. Stefan Mundlos, Director of the Institute of Medical Genetics and Human Genetics at the Charité, also participated in the study, as did over 90 other scientists.
“Patients want a prompt and accurate diagnosis. Artificial intelligence supports physicians and scientists in shortening the journey,” says Dr. Christine Mundlos, Deputy Managing Director of the alliance of patients with chronic rare diseases (ACHSE) e.V. “This also improves the quality of life of those affected to some extent.”
The Latest on: AI and facial analysis framework
via Google News
The Latest on: AI and facial analysis framework
- Pix of Japanese wearing masks in demand for AI trainingon July 27, 2022 at 5:00 pm
Pixta Inc., the operator of the major Japanese stock photo platform Pixta, began offering AI training data in 2018. Facial photos ... are moving to create a legal framework to protect personal ...
- Supermarket facial recognition challenged by privacy groupon July 26, 2022 at 5:26 pm
Privacy campaign group Big Brother Watch has filed a legal complaint against the Southern Co-op supermarket chain for its use of live facial recognition (LFR) in ...
- China’s facial recognition ‘dragons’ dealing with potential habitat loss, competitionon July 25, 2022 at 6:02 pm
The growth of smart electric vehicles and influx of money from its Hong Kong stock launch will see SenseTime through challenging market conditions.
- AI-generated faces are taking over the interneton July 21, 2022 at 7:30 am
AI can easily generate realistic faces that are completely fake, and it's making it harder for us to stop the spread of misinformation ...
- State-of-the Art Corsight AI Facial Recognition Technology Ranks Top in NIST Bias Testingon July 21, 2022 at 4:51 am
Corsight AI, today announced its facial recognition technology ranked top in the most recent facial recognition technology benchmarking test (FRVT 1:1 Verification), conducted by National Institute of ...
- Medical Spa Market Size, Trends, Growth, Share, Regional Analysis with Future Growth Outlook and is expected to Gain USD 41.37 Billion by 2029on July 20, 2022 at 4:21 am
The market report curated by the Data Bridge Market Research team includes in-depth expert analysis, patient epidemiology, pipeline analysis, pricing analysis, and regulatory framework.
- Emotion AI: A possible path to thought policingon July 17, 2022 at 5:10 pm
Community Join executives from July 26-28 for Transform's AI & Edge Week. Hear from top leaders discuss topics surrounding AL/ML technology, conversational AI, IVA, NLP, Edge, and more. Reserve your ...
- Microsoft Drops Emotion Recognition as Facial Analysis Concerns Growon July 6, 2022 at 2:21 am
The centerpiece of the announcement is that the software giant “will retire facial analysis ... to the Responsible AI Standard, reviewed its Facial Recognition and Custom Neural Voice technologies to ...
- Urgent need for new laws to govern biometrics, legal review findson June 29, 2022 at 6:51 am
It also takes into account less well-known and novel forms of biometrics, including behavioural traits such as gait or keystroke analysis ... framework for the management of biometrics, including ...
- Woolworths leak says it uses AI and facial recognition — but the company denies iton June 28, 2022 at 9:31 am
A leaked Woolworths training slide says it uses 'artificial intelligence ... facial recognition technology, prompting calls for a ban on the technology until Australia places regulatory framework ...
via Bing News