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Unknown genetic disease kills children by the age of three


Unknown illness is responsible for the death of 14 children in Yakutia. The cure for this disease still does not exist.

Children who have this disease are killed by this disease at the age of three. It seems that gene mutations cause this deadly disease.

Nadezhda Maksimova discovered the disease. She is in charge of the Yakutsk laboratory at the North-Eastern Federal University.  Sixteen patients were diagnosed with this disease and only two of them have not succumbed to it.

Scientists at the University laboratory are studying this disease and trying to discover what causes irreversible metabolic disorders in children.

Further research of this disease will be continued in Japan. One of the patients who survived has to go to Japan together with his parents.

The patient must be sent to Japan because Russian law prohibits sending blood samples for analysis abroad.

The scientists at the University of Osaka succeeded in sequencing the specific mutations in the gene. This discovery will be useful in finding the cure.

Maksimova has already discovered two other deadly diseases. These are known as the SOPH syndrome and the 3-М syndrome.

She added that the diagnosis of a genetic disease takes a lot of time and effort. In order to discover this genetic disease, scientist even visited Yakut villages and examined a lot of people.

Further research was conducted in town to gather adequate amount of data for a detailed research. Current results were preceded by nearly 25 years of medical and genetic counseling.

After scientists have gathered all relevant pieces of information, they have to succeed in mapping the gene responsible for a disease.


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