AI News, BOOK REVIEW: AI Diagnoses Genetic Syndromes Just From Patients' Pictures artificial intelligence

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Just a few years ago, it would have been inconceivable that ‘deep learning’ algorithms would be diagnosing tuberculosis in chest x-ray images experts – and yet that is exactly what is happening, often with an even greater degree of accuracy than human experts with years of experience.

The potential applications of AI in medicine, and medical diagnostics especially, are many, but one new avenue of research has recently emerged – AI could identify genetic diseases, simple by looking at the face of a patient.

By analysing over 17,000 facial images of patients with various conditions, the AI technology was able to spot genetic conditions such as Angelman syndrome, a disorder of the nervous system, simply by analysing pictures of the patient’s face.

They point to the easy accessibility of facial images via the internet and social media, and warn that payers and employers could try and use the technology to identify and discriminate against individuals with particular conditions.

Researchers use AI facial recognition to diagnose rare diseases

Researchers are using artificial intelligence to diagnose rare genetic diseases by scanning a person’s face or a photograph, according to a study published this month.

“It demonstrates how one can successfully apply state of the art algorithms, such as deep learning, to a challenging field where the available data is small, unbalanced in terms of available patients per condition, and where the need to support a large amount of conditions is great,”

DeepGestalt, an AI Technology that Can Detect Rare Disorders through Pictures

A new study has revealed about a new artificial intelligence technology which can detect some category of genetic disorders by just using a photo of a face.

Dubbed as DeepGestalt, the computer program and has been trained on a series of data set of over 17,000 photos of patients affected by more than 200 rare disorders.

According to the researchers, while conducting a test with 502 images, more than 90 percent of the time, the computer software successfully placed the correct syndrome in its top 10 list.

AI Diagnoses Genetic Syndromes Just From Patients’ Pictures

An algorithm is able to identify genetic syndromes in patients more accurately than doctors can — just by looking at a picture of a patient’s face.

“With this study, we’ve shown that adding an automated facial analysis framework … to the clinical workflow can help achieve earlier diagnosis and treatment and promise an improved quality of life.” Severe genetic syndromes affect about six percent of children born globally. Detecting them early on can help with treatment but getting an accurate diagnosis is often a lengthy and expensive process.

In one test, Gripp and colleagues trained DeepGestalt on a set of more than 600 images of patients with Cornelia de Lange syndrome, a genetic condition that causes developmental delays and growth defects, and about 1100 non-patient images.

In another test, the researchers trained the model using more than 17,000 images of patients with over 200 distinct genetic syndromes. Using that knowledge, the tech was able to place 500 patients’ genetic syndromes in a list of top-10 possibilities in more than 90 percent of cases.

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