10 июня 2021

Identification of rare genetic diseases with artificial intelligence


The K-SkAI company, a resident of the Skolkovo Foundation and the developer of the Webiomed platform of predictive analytics and health risk assessment based on machine learning, has launched a tripartite project called Electronic Medical Examination with the Association of Medical Geneticists and Takeda Pharmaceuticals.

The goal of the Electronic Medical Examination project is to increase the efficiency of medical care through the early detection of orphan diseases using artificial intelligence. For this, project experts are developing machine learning algorithms and models for identifying symptoms of orphan diseases and their subsequent interpretation, which should contribute to the early differential diagnosis of orphan diseases and timely prescription of treatment to preserve the socialization and quality of life of patients. The algorithms to identify suspicions of Fabry disease, Hunter syndrome and Gaucher disease are currently developing.

As part of its activities, the Association of Medical Geneticists is interested in improving the quality and availability of medical care for patients with congenital and/or hereditary orphan diseases. The Association provides scientific, educational, organizational, and methodological assistance to medical specialists in the field of medical genetics, contributes to the development of new methods of diagnostics of congenital and hereditary diseases, and the introduction of advanced experience and the latest achievements of world science and technology in the daily clinical practice of health care.

The Takeda Company has been operating on the Russian market for 28 years and is among the top 20 leading pharmaceutical companies. The company strives to increase the availability of innovative drugs and new therapies and conducts extensive research and development aimed at creating innovative drugs in such therapeutic areas as the treatment of rare diseases, gastroenterology, immunology, neurology, oncology, and hematology.

The Webiomed platform analyzes electronic health records available in a healthcare facility and, using various artificial intelligence technologies, including extracting information from unstructured medical records, identifies disease symptoms. Based on this information, the system can form suspicions of diseases missed by the doctor.

Orphan diseases are rare diseases not only in physician practice but in the population as a whole, their manifestations are multifaceted and have an extremely low detection rate, leading to a reduction in the life or disability of patients. The use of artificial intelligence technologies, the development of digital algorithms will undoubtedly contribute to an increase in the level of diagnostics, an improvement in the quality of life of patients, - noted Olga Volkova, the medical expert of the K-SkAI company.


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