Ufa scientists get prize for osteogenesis imperfecta test system
18 May '12
Scientists of the Bashkir State University have taken a prize at the all-Russian competition “Start-2012” for their osteogenesis imperfecta pre-birth DNA-diagnostics test-system, TV and radio company GTRK Bashkortostan reports.
As a prize, Ufa scientists received a $64,000 grant to develop and implement the test-system.
Osteogenesis imperfect is a serious genetic disease that manifests since early childhood. The disease has 17 types and implies, among other symptoms, bone fragility, bone deformation and low height of a person. There are 98 cases of OI disease in 94 families in the Republic of Bashkortostan.
BSU scientists are currently working on a special test-system that allows to identify gene mutations at prenatal development stage. The project is carried out jointly by the Department of Genetics and Fundamental Medicine of BSU and the Innovation Center of BSU.
According to the scientists, DNA-diagnostics will help to decrease frequency of births of kids with OI disease. In cases the mutation gene is discovered, doctors can make up a treatment plan. That is why the pre-birth DNA-diagnostics test-system is important.
Winning the all-Russian competition gives scientists financial opportunity for further disease studying. Under plans, the researchers are to examine another gene and then implement the test-system.