Human Stem Cell Institute (JSC "HSCI")announces the completion of the technical validation of the developed their DNA chip designed for molecular genetic diagnosis of hereditary diseases occurring in the territory of the Russian Federation.
The unique feature of this DNA chip, unlike already on the market diagnostic systems, it is focussed on the identification of genetic diseases common in the Russian Federation, and the genetic predisposition to multifactorial disease. It is assumed that it can be used to diagnose up to 400 mutations associated with hereditary diseases 87 and 12 reveal a predisposition to multifactorial diseases with a genetic component.
Technical validation is one of the key steps in developing a DNA chip and is testing a working prototype, confirming compliance with its real technical features planned. During tests carried out on a DNA chip, obtained from 13 volunteers who were shown 100% accuracy and reproducibility of the known genetic markers and the ability to determine the 98% of the mutations and polymorphisms of the target numbers.
The next step in the development of a DNA chip is a clinical validation, which HSCI plans to complete by April 2013. In case of a successful clinical validation, the chip will be approved for use in the laboratory of the company.
Of particular importance in the prevention of severe symptoms of hereditary diseases has them early diagnosis (newborn screening) and treated early.
Currently, HSCI has been in the service of the Russian Federation "Gemaskrin", in which the umbilical cord blood of a newborn on the DNA diagnosis is carried out to identify the six most common in the Russian Federation of monogenic hereditary diseases and conditions, and their carriers (phenylketonuria, cystic fibrosis, hearing loss, lactase deficiency, the proximal spinal amyotrophy, Gilbert's syndrome). The "Gemaskrin" allows you to quickly and accurately determine the presence of disease. On average, the holding of such analysis takes 2 weeks. Diagnostic accuracy was 99.8%, and to determine not only the presence of the disease, but also its carrier. The geneticist decrypts the results and gives parents the necessary recommendations.
The plans of the HSCI — creating a network of RF medical and genetic counseling, increasing the number of diagnosed hereditary diseases due to the introduction into practice of a DNA chip, and the expansion of consumer services at the expense of the adult population of reproductive age.
Approximately half of all cases of inheritance of disease occurs when the mother and father did not suffer from hereditary diseases, but are latent carriers of the damaged genes. If a child inherits from each parent of such a gene is affected, it will lead to the development of the disease. Guided by information about their own genetic characteristics obtained using DNA chip, as well as the possibility of using modern reproductive medicine, the parents will be able to give birth to a healthy baby and avoid the risk of conceiving a child with severe or fatal hereditary disease.