Parseq Lab Co. Ltd Interview met Alexander Pavlov (Directeur

Parseq Lab Co. Ltd
Interview met Alexander Pavlov (Directeur)
Auteur: Netherlands Office for Science & Technology Moscow, Elena Kyzyngasheva
Skolkovo Innovation Center is één van de meest in het oog springende pogingen om de Russische
economie te diversificeren en te moderniseren. Innovatiestad Skolkovo brengt wetenschappers,
bedrijfsleven en investeerders samen met als doel om innovaties tot stand te brengen, onder andere in een
biomedisch cluster. Sinds de start in 2010 zijn ruim 215 innovatieve bedrijven samen, die actief zijn in het
ontwikkelen van innovatieve medicijnen, producten voor medische diagnostiek en behandeling, nieuwe
bio-compatible materialen en cell technologies.
Een van die bedrijven is het jonge bedrijf Parseq Lab dat diagnostische systemen op basis van genetische
analyse ontwikkelt, valideert en implementeert. Zich richtend op menselijke genetica, DNA-sequencing,
algoritmische biologie en IT-infrastructuur creëert het bedrijf producten die voorspellende en preventieve
geneeskunde een stap dichterbij brengen.
In het kader van het artikel ‘modernisering en innovatie in de medische sector’ sprak NOST Rusland met
Alexander Pavlov, directeur van het bedrijf Parseq Lab (links op de foto).
Parseq Lab Co. Ltd. specializes in diagnostic solutions for analysis of hereditary human diseases,
comprehensive databases of the most significant genetic variants (mutations and polymorphisms resulting
in severe malfunctions formation) and assays for forensics. The company is also qualified in elaborating
bioinformatics tools, software and computing infrastructure for interpretation of sequencing data and
further application for diagnostic purposes. Developed products are intended to help translate target
sequencing and genome sequencing data into clear and useful information both for doctors and medical
geneticists
The company operates in two areas. The first is development of protocols and statistic components for
carrying out lab experiments using Next Generation Sequencing1. The second direction is IT solutions
engineering and database design to work with genomic data. By combining these elements – lab and
1
Particularly new generation of Ion PGM sequencer (Personal Genome Machine).
software – the data used for software development is real information obtained from the lab, which makes
the IT platforms better adapted to real demand.
Parseq Lab was founded in 2012 by a group of 11 specialists with different backgrounds, such as
programmers, engineers, biologists, geneticists. It dedicated itself to the creation and implementation of a
system for neonatal diagnostics based on NGS that helps to identify diseases such as cystic fibrosis,
phenylketonuria and galactosemia. The system was validated in Europe and received CE-mark for in vitro
diagnostics in 2013.
The implementation of targeted genome analysis in neonatal screening methods is rather unique, at least
in Russia, since all previous efforts were non-systematic. This system can be used particularly in
screening labs (of which there are several dozens in Russia). Its concept and simplicity allow using it for
mass clinical diagnostics and not only for medical research. The system is planned to be implemented in
several regional programs for newborns screening in 2015.
Parseq Lab has two business models: 1) to provide diagnostics services, 2) to sell equipment (sequencer,
reagents, software, special lab server) directly to the lab.
The company also works on the following projects:
1) Eye diseases:
For example, ophtalmo-genetics - differential diagnostics of retinal degeneration. This is a large
group of eye diseases by adult patients. The most prevalent cause of the disease is a hereditary
factor. Its identification is a very important factor for prescribing therapy and family planning.
2) Non-invasive prenatal testing
Prenatal screening is world-wide known and has started in Russia in 2009. Parseq Labs develops
prenatal diagnostics which allows to specify individual risks and to select high-risk patients.
3) Forensics
Person identification within disaster- or criminal investigation. Methodology is well-known and
applied but NGS has much potential in this area being able to identify person origin and
population in complex cases.
4) IT-infrastructure for gene data, its storage and analysis
The company has a partnership with EMC corporation, developing and adapting genomic
applications particularly for operations with big data. In essence genome medicine is mostly
mathematics containing big data, requiring deep analytics and computation capability.
Having gained large experience in NGS strategies and genome data analysis Parseq Lab is interested in
entering in partnership in the field of clinical research, clinical and medical genetics based on particular
clinical demand. The company also has an interest in commercialisation of developed products. The entire
system has been tested in the EU, has a version in the English language and has a large potential in
screening strategies. The main laboratory is currently based in Saint-Petersburg, and the demo-laboratory
in Moscow.

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