Experts discussed the development of early diagnosis of rare diseases

On November 12, a press conference "Early diagnosis of rare diseases: alertness, algorithms, technologies" was held at the Izvestia News Center. The ideological and technical organizer was ANO INBO OMICS.

"The ability to see the rare in the frequent is an important skill for doctors in the era of the development of diagnostics of rare diseases. It is necessary to develop orphan alertness, and it is equally important to raise awareness and willingness of parents to learn about the disease," said Ekaterina Zakharova, MD, Associate Professor.

A new procedure for conducting preventive medical examinations of minors has recently been released: "The document is truly revolutionary. The quality and quantity of examinations by a neurologist, ophthalmologist, and otolaryngologist have been improved. Pediatricians will record deviations in body mass index to identify the risks of obesity and body weight deficiency. Risk groups have been identified for conducting a cholesterol level study. Such, in general, simple studies will help to identify rare diseases," said Nato Professor Vashakmadze, MD.

"It was not possible to add ultrasound examinations to the examinations, as well as biochemical studies that are necessary for the early detection of rare diseases such as lysosomal acid lipase deficiency, Niemann-Pick disease, Alagille syndrome and others," recalled Tatiana Strokova, MD, Professor of the Russian Academy of Sciences. — It is important to develop a system of preventive examinations and laboratory testing. Adding parameters to detect liver dysfunction is extremely important for the diagnosis of many common and orphan diseases."

It is also important to expand the use of artificial intelligence as a tool for the doctor, but not as a substitute. It can be successfully used to collect medical history, document management, data comparison and analysis of phenotypic features that should be included in differential screening. "The so-called digital phenotypes of various diseases are being compiled. And artificial intelligence will be used to analyze and identify patterns in these data sets," said Sergey Bochenkov, a geneticist and head of the pediatric Department of Congenital and Hereditary Diseases.