A unique diagnostic solution for severe hereditary diseases in newborns

October 16 at the Medical Genetics Research Center of the Russian Academy of Medical Sciences (MGNTS RAMS) will host a seminar, which will present the results of the development of an innovative method of diagnostics of severe hereditary diseases in newborns. The project was implemented by the biotech company Sequoia genetics (SC Alcor Bio,
Saint Petersburg) with the support of a number of Russian and European partners.

"In fact, we were one of the first was able to show that such an efficient method of DNA analysis as the next-generation sequencing (NGS), can be directly, without all sorts of supporting research use in clinical practice — says the scientific director of Sequoia genetics Alexander Pavlov.- When making this decision, we were guided by common, but strict requirements that apply to the development of diagnostic kits for molecular genetic analysis. " 

This solution for molecular genetic diagnosis — "Neonatal NGS gene diagnostics"— A world novelty is based on the technology of next generation sequencing (next-generation sequencing, NGS) and consists of a set of reagents, protocols, and specialized software. The method is intended for the diagnosis of three inborn errors of metabolism: cystic fibrosis, phenylketonuria and galactosemia. Diagnosis of these diseases in all infants recommended by the World Health Organization, is mandatory in the Russian Federation and many developed countries in the framework of public screening programs.

Clinical trials have established Sequoia genetics solutions passed this summer in several European laboratories:

  • Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP, Portugal)
  • Company StabVida (Portugal)
  • Center for Genome Research at the University of Liverpool (Centre for Genomic Research University of Liverpool, UK).

All these laboratories are properly certified to conduct such genetic studies and for quite a long time, use the next-generation sequencers in their routine practice. Verification of the method was carried out in an approved laboratory in Switzerland.

"In a clinical trial in each laboratory was sent to 192 samples, all of which have been analyzed by our method — says Alexander Pavlov.- After the opening of the envelope with a description of the samples and comparing the results of analyzes have been established diagnostic properties of the system and shows the superiority of the analytical method of diagnosis. It turned out that our approach allows to detect quite interesting cases of genetic variants that until now have been extremely time-consuming to research. We do not intend to be limited to conducting clinical trials recommended by different standards and institutions. The plans Sequoia genetics — conducting a pilot clinical testing, ie the launch of this approach together with the existing protocol for screening newborns. This will set the overall feasibility and justify the introduction of modern diagnostic solutions into routine practice of screening. "

The event will bring together scientists, clinicians, organizers of science, government officials, developers of diagnostics, laboratory services staff, specialists, who are either interested or involved in the molecular genetic diagnosis of newborns.

Sequoia genetics
The company is a group of companies Alcor Bio. In 2012 she became a resident of "Skolkovo" project running "Personalized genomic diagnostics"— Russia's first comprehensive project for the development of an information environment for the analysis of personal genomov.V 2013 Sequoia genetics company with project "Neonatal NGS gene diagnostics": The winner of the contest for the award of a grant for the best Skolkovo project among residents in the cluster of biomedical technologies, has received a grant of State Organization "Fund for Assistance to Small Innovative Enterprises in Science and Technology" for the "START 2013", winner of the best innovation of the Competition projects in the field of science and higher education of St. Petersburg in 2013 in the category "Best Innovative Idea"; established partnerships with leading academic and industrial organizations worldwide. Information on the new test system: Designed for the detection of severe hereditary diseases in newborns and their carrier for couples planning pregnancy. The solution for the molecular genetic diagnosis is based on the technology of next generation sequencing (next-generation sequencing, NGS) and consists of a set of reagents and specialized software product development obespecheniya.Pri designed to find genetic variants within the defined target regions of the genome, focusing on the issue traceability and uniqueness of sequencing data in order to ensure the accuracy and reproducibility of the results issledovaniya.Itogom perform complex tasks under the project "Neonatal NGS-gene diagnostics" will not only create, but also the introduction into clinical practice of the highly diagnostic method three inborn errors of metabolism: cystic fibrosis, phenylketonuria and galactosemia. Diagnostic decision implements the molecular genetic analysis component-based semiconductor sequencer Ion PGM (Life technologies), using the protocols targeted enrichment of the sample and molecular barkodirovanie (up to 48 samples). Software and specialized database of pathogenic mutations are designed to analyze the sequencing data, visualization of results and generation of medical otcheta.Sozdannoe solution is multi-ethnic and equally effective may be used for research in different parts of the world. This will allow the genetics specialist, receive accurate and full information about the availability of genetic markers of severe hereditary diseases in the newborn, or their carrier state.

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