AI makes it easier to diagnose genetic diseases and dementia

Release date: 2017-01-13

It took 16 years for the doctor to figure out what a child is suffering from, and Face2Gene's APP may take just a few minutes. Alzheimer's disease is difficult to detect early, but tools developed by Rudzicz can be tested frequently and diagnosed in time. This is the charm of AI, which may change the medical industry.

This is a true story. "Patient Number Two" came to the world. His parents were fathers and mothers, only 20 years old. It is normal during pregnancy and the production process is very smooth. After a few months, things suddenly changed. Because the ear is infected, the child's ear is suffering from inflammation and difficulty breathing at night. As far as his age is concerned, the child is too small, and by the time of his fifth birthday, the child is still unable to speak. The situation is getting worse and worse, and the child has epilepsy. Brain MRI scans, molecular tests, genetic tests, and many doctors, still can't find the answer. There is really no way. In 2015, young parents decided to sequence the exome. The exome is part of the genome, which encodes the protein; the doctor wants to know if the child has a genetic disease. The result came out: ARIDIB.

This genetic variation means that the child will develop Coffin-Siris syndrome. The problem is that the "Patient No. 2" performance is not very similar to the Gus-Sydney syndrome. If it is this disease, the scalp hair is sparse and the little finger is incomplete. For this reason, doctors and young parents discussed the exome sequencing results without considering the disease at all. Karen Gripp is a doctor who participated in the consultation. She was taken aback when Karen Gripp uploaded the child's face photo to Face2Gene. The Face2Gene APP was developed by programmers who also helped Facebook identify facial images in photos. The Face2Gene app can perform millions of calculations at super-fast speeds: How tilting is the eye? How narrow is the split? How low is the ear? After the computer performs quantitative analysis, a list is given, which is all possible diseases. The APP even draws a heat map on the photo to show the best matching features.

"After reading, everything is clear," Gripp said. She is the head of the genetic medicine department at Alfred I. duPont Children's Hospital and has extensive experience. Gripp also said: "No one found out before the APP prompt." Once, the "Patient No. 2" doctor was plagued for 16 years, and Face2Gene found the answer in just a few minutes.

There are many genetic conditions that can be displayed in facial images. These features are unique and provide clues to tell the doctor what the patient is suffering from. In fact, the technology used by Face2Gene is just one of the new technologies, and there are many technologies that use computers to analyze, classify, and find patterns from massive amounts of data. New technologies are built on artificial intelligence, such as deep learning and neural network technology. By identifying and diagnosing diseases, AI is expected to revolutionize medicine.

Machine learning can diagnose genetic syndromes and diagnose other diseases. The RightEye GeoPref Autism Test System allows early detection of illnesses, which can be detected when the child is only 12 months old; 12 months is a critical stage and early treatment results can vary greatly.

At the CES show on January 2nd, a new technology emerged. When children watch split-screen video, the infrared sensor tests the child's eye movements; one side of the video is the person and the face; the other side is the moving geometry. Graphics. Children should be more interested in the face, not abstract objects. According to the time the child is watching, the child's degree of autism can be judged initially.

The technology was invented by the University of California, San Diego. Researcher Karen Pierce tested more than 400 children who just walked and found that the system had an 86% chance of correctly predicting autism. The technology is not yet mature, and the FDA has not approved it and cannot be used as a diagnostic tool. Melissa Hunfalvay, Chief Scientific Officer of RightEye, said: "From a machine learning point of view, this kind of test is quite simple. But before it is diagnosed, it can only be diagnosed by doctors or parents. This raises a problem: it cannot be quantified. ”

In the United States, Alzheimer's disease is the sixth "fatal killer", and similar tools can help doctors diagnose early. Many times, doctors are unable to detect physical symptoms in time and take appropriate interventions. But machine learning has the ability that doctors don't have. It can use voice to find signals that cause cognitive impairment. The Toronto Winterlight Lab has developed a set of tools that can detect signs of dementia as early as possible. Laboratory co-founder Frank Rudzicz explained that patients will shake, and this high frequency fluctuation can only be found by computers, and humans can't find them.

When diagnosing a patient with Alzheimer's disease, doctors typically test patients with pen and paper, and new tools developed by Winterlight are more sensitive. The traditional method can only be tested once every 6 months, and the tools developed by Rudzicz can be tested many times a week. It can continuously evaluate the patient's perception function and observe the period of good performance and poor performance. The new tools are still in the testing phase, but medical experts in Canada, the United States, and France have begun trials.

When you hear these news, you may feel very sci-fi. In fact, doctors have long used computers to diagnose diseases. There are dysfunctions in our physical behavior, the signs are subtle and difficult to detect, and the computer can detect and analyze numerous small signs that are more sensitive than humans. For example, if there is no computer, Patient 2 cannot compare its exome with thousands of patients and cannot find the mutant gene. It is these mutations that make him suffer from Gee-Sydney syndrome. .

The doctor will not be eliminated. There are about 8,000 known genetic syndromes, and Face2Gene can diagnose 4,000 of them. The database will flash countless pictures, and the system will look for facial patterns to diagnose the disease. However, Face2Gene still needs doctors to confirm the results.

Source: 36æ°ª

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