The long-term presence of symptoms, the cause of which ordinary doctors cannot understand, is a reason to consult a geneticist. In this respect aif.ru “Medical Genetics Research Center named after Academician NP,” said the chief physician of the Federal State Budgetary Institution. Bochkova”, Far Eastern Federal District Sergei Voronin chief freelance expert in medical genetics of the Ministry of Health of Russia.
“Hereditary diseases are characterized by a long course, the lack of effect of traditional treatment and the involvement of various organs and systems in the pathological process. This indicates the need to consult a geneticist. “The specialist will help put all these non-specific symptoms together like a puzzle and place them into a hereditary disease picture,” he says.
Voronin added that more than 7 thousand hereditary diseases are known. Its manifestations can affect the nervous system, vision, gastrointestinal tract and other systems. At the same time, patients with a rare disease may go to doctors for years and not receive a diagnosis.
The most reliable way to diagnose hereditary diseases is newborn screening. It allows you to identify the disease not only in the child but also in the parents.
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