Recognise and rescue: how to treat patients with genetic diseases

PHOTO : “the World 24” / Marina Grekova


Medico-genetic scientific center celebrates fiftieth anniversary.
It experts define the most rare and complex disease and help to cope with them. About the everyday life of the geneticists – the correspondent channel “WORLD 24” Mikhail Pranovich.

That she’s one in a million, Adele Kaplan learned in childhood. However, the reason for the joy of it is not. In six years, the girl began to show alarming symptoms, and none of the doctors could answer than it hurts.

“Frequent fainting, nosebleeds, increased belly, very severe fatigue, chronic, permanent. In childhood is quite normal,” she said.

Only two years later the girl was sent to geneticists. The parents heard the diagnosis of Gaucher disease. This is one of the rarest diseases. Therapy is for him, and the girl she helped. Adele graduated from high school, College, married. Works as a teacher of Junior classes. About his disease tries to spread.

“Start sympathetic looks. Any headache, any cold that might be and without rare diseases, and at once begins: it’s because you have Gaucher disease?”.

Such patients throughout Russia about 18 thousand. Thanks to correctly chosen therapy they can live a full life. The main thing – time to diagnose.

“The main thing is suspect. And then, with regard to laboratory diagnostics, everything is simple. Because we have such a highly sensitive, specific tests. One spot of blood, we can measure the activity of the enzyme and to identify, a person has the disease or not”, – said Ekaterina Zakharova, head of laboratory of hereditary metabolic diseases FSBI “Medical genetic research center”.

The staff of the medical genetic research center to diagnose helps tandem mass spectrometer equipment is the latest technology in the field of genetic research.

“They can analyze substances not only from the blood. From urine. For example, recently, from the urine we did the analysis on the so-called bile acids. And was diagnosed with a rare that there are only five patients with this diagnosis,” explained Ekaterina Zakharova.

The specialists of medical genetic research center in cooperation with partners from the CIS. By the way, many of them started their careers here, in Moscow.

“And now we also, of course, contact with experts in various countries, conducting joint conferences, symposia, we have a joint publication… Is both Kazakhstan and Belarus, Georgia and other countries. And I hope that this cooperation will continue,” – said Sergey Kutsev, Director of FSBI “Medical genetic research center”.

For 50 years the genetic service has saved the lives of tens of thousands of patients with the most rare and complex diagnoses. Geneticists believe that soon will be able not only to contain the disease by genetic therapy, but to win them. Latest drugs for clinical trials.