The program of the 3rd international scientific conference “Postgenomic methods of analysis in biology, and laboratory and clinical medicine” includes next issues: genomics, proteomics, metabolomics, bioinformatics, advanced cell technologies, nanotechnologies, biomarkers, personalized medicine and drug development. Guests of the conference are scientists from major research institutes of Russia, US, Canada, Japan, Germany and Netherlands. The workshop is organized by the Kazan Federal University (Privolzhsky Federal District, Russia) known for its highly skilled specialists and scientific schools of biology, chemistry, math and physics.
“Neonatal NGS-based diagnostics” project will result in the development of comprehensive solution for diagnostics of severe inherited diseases in newborns and families planning a pregnancy. The test is designed for the detection of mutations in genes, which are connected with cystic fibrosis, phenylketonuria, galaktosemia and congenital adrenal hyperplasia diseases. The key element of the assay development is a precise workflow for the NGS-sequencing with automation of template preparation. One of the main features of the solution is proprietary software, allowing physician to independently proceed and analyze genetic data. This work is carring out in collaboration with Chimexpert Agency, Tecan Company and Life Technologies Corporation.
It should be admitted that the implementation of such solution is the initial step in realization of first comprehensive project aimed at development of interactive tool for personal genomes analysis in medical purposes. Introduction of this tool into clinical practice will dramatically change the efficiency of molecular genetics diagnostics. Once the individual’s genome has been sequenced, the physician gets the opportunity to conduct all required genetic tests in real time mode. This project presents worldwide innovation and is supported by Skolkovo Innovation Center.