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Aneuploid Screening Of Embryonic Stem Cell Clones By Digital PCR

qPCR, dPCR, CRISPR/Cas9, phenotypic variation

Researchers at the Institute Clinique de la Souris investigate the role of genetics in health and disease concentrating on experimental variation of genome sequence in mouse models. These studies on genetically engineered mice can be applied to pre-clinical studies including the validation of therapeutics targets as well as pharmacological and toxicological studies in mice.

Guillaume Pavlovic’s research focuses on the aneuploid screening of embryotic stem cell clones using metaphase karyotyping and digital PCR.

What’s your research about?

My research focuses on the successful germ line transmission of a mutated allele in embryonic stem (ES) cells which depends on karyotypic integrity. Classical methods for the identification of aneuploidy involve cytological analyses are both time consuming and require rare expertise to identify mouse chromosome.

In my research, we validated a PCR based method as an alternative to classical karyotype analysis that enables laboratories that are non-specialist or work with large numbers of clones to precisely assess ES cells for the most common aneuploidy found in ES cells prior to microinjection to maintain high level of germ line transmission potential. This method can be applied to any other cell line (e.g. iPS and human cells) to evaluate the karyotypic integrity.

What does a typical day like for you?

A typical day does not actually exist. My job is to manage a team dedicated to the creation and validation of genetically modified mice and rats for our customers. I’m also leading R&D programs focusing on development of new tools in the genetic engineering field like CRISPR/Cas9.

I am also taking part in European/international consortia where I discuss with scientists or industrial partners the latest developments in our field. I also manage my team activities and improve our model generation process while also developing new tools for the scientific community.

What do you enjoy most about your area of research?

As our institute participates in various academic consortia and provides services as a CRO for private companies, I have really the chance to be engaged in a large variety of biomedical research topics. I really enjoy being able to work on subjects as different as mouse microbiota, CRISPR/Cas9 genome editing, gene therapy or developing new animal models to understand intellectual disability, urogenital diseases or rare genetic diseases for example.

Are there any professional achievements you would like to share or highlight?

We have very recently discovered a new use of CRISPR/Cas9 system in both mice and rats that allow us to generate very efficiently and quickly small and large genomic rearrangements like inversions, duplications or deletions. This system will be very useful for researchers to study structural variant disorders like Down’s syndrome.

Guillaume Pavlovic-dPCR-qPCR
Guillaume Pavlovic
is the Head of the Genetic Engineering and Model Validation Department at the ICS and in charge of the generation and validation of genetically mouse and rat models for academic laboratories. He presented at the 2nd qPCR & Digital PCR Congress: USA.

What are the future applications of dPCR? Join the conversation at the 3rd qPCR & Digital PCR Congress: USA.


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