KFU medical departments seek to find treatments for hereditary syndromes

Newest results were showcased at the International Myology School in Moscow on 16th - 19th May 2018. KFU was represented by Junior Research Associate Mikhail Mavlikeev. In particular, he spoke about an expedition to the Republic of Dagestan, a multiethnic region in Southern Russia, conducted by a combined team of researchers from Kazan, Ryazan, Moscow, and Saint-Petersburg.

As he explained, "We work on diagnostics of orphan diseases and aim to create medications to alleviate such conditions.

"Dagestan is a mountainous land with many isolated villages, and marriages between first and second cousins are rather widespread, which leads to higher prevalence of hereditary syndromes. During one of such trips we found an extremely rare ailment - limb-girdle muscular dystrophy type 2Q. It had only been described in literature once before we published our inquiry."

Another voyage to Dagestan was aimed to gather material for a general hereditary syndrome registry, and hundreds of patients were inducted.

"Those patients have rare genetic diseases, and there is a lack of experts who can tackle such cases. There is also a significant portion of undiagnosed individuals. We fill in our registry to speed up medication research. For instance, currently there are works on a drug to fight the most widespread hereditary disease of muscles - Duchenne muscular dystrophy. 1 in 3,500 boys are affected. Last year, driaspersen, a drug based on exon skipping, was registered in the United States. Other research is ongoing in various countries for other diseases. To that end, our registry can be of great assistance."

In other news, DMGP works together with the Gene and Cell Technologies Lab to find new ways to battle another neuromuscular disease - dysferlinopathy. Researchers test their findings on transgene animals.

Importantly, students of all ages are deeply involved in this cutting-edge research. This year, 46 students submitted their course projects at DMGP.

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