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PolyGene helps SYBIL project celebrate a year of progress on skeletal diseases

news-releasesPolyGene AG
February 5th 2015

Rümlang, Switzerland: – Innovative transgenic research institute PolyGene AG is celebrating the first birthday of the EU-funded SYBIL (Systems Biology for the Functional Determinants of Skeletal Diseases) project researching causes and therapies for bone and cartilage diseases like arthritis.

The autumn 2014 SYBIL newsletter, hosted on the PolyGene website, records some of the major advances that the project team have achieved in their first year. These include prioritization of variants in 40 target genes for functional validation, the development of over 60 new cell models, validation or near completion of 13 new mouse models of rare skeletal diseases (RSDs).

SYBIL has also succeeded in establishing preliminary phenotypic characterization of new models of RSDs, generating new ‘–omics profiles’ for diseases, establishing in silico and systems models of osteoblasts and chondrocytes and identifying potential biomarkers for further validation.

The project generated several scientific publications over the course of the year, including papers on generation of the first autosomal dominant osteoporosis Type II (ADO2) and an extraordinary case of mild recessive osteopetrosis owing to novel splicing hypomorphic mutation in the TCIRG1 gene.

Innovative systems

The SYBIL team has also deployed a web-based Project Management and Workflow System (PMWS) that allows each work package to be described in terms of investigations and lines of enquiry. PWMS features include research maps that can be generated to assist in the planning of enquiries within the investigation, along with lab notes describing individual findings and tools that allow images to be annotated according to relevant ontologies.

SYBIL has received extensive press coverage in both local and national newspapers as well as EU research and rare disease publications.

The project helped sponsor the first Newcastle Achondroplasia Symposium on 21-22 September, which saw members of The Restricted Growth Association, Child Growth Foundation, The Dwarf Sports Association, The Little People of Ireland, Little People UK and Short Stature Scotland come together to support clinicians who wish to improve the quality of healthcare services available to all people of restricted growth in the UK and Ireland.

A SYBIL Satellite Meeting was organised as part of the prestigious Matrix Biology Europe meeting at Rotterdam in June 2014. This served as a platform for junior researcher networking and also raised the awareness of SYBIL across the scientific community and patient groups in Europe.

During September, SYBIL members from the Institute for Biochemistry (Cologne) Faculty of Life Sciences (Manchester) and Institutes of Genetic and Cellular Medicine (Newcastle) had a three-day scientific retreat at Allendale in the hills of Northumberland.

About PolyGene

PolyGene is a privately owned research institute, located near Zurich, Switzerland, that develops state-of-the-art transgenic animal models of human disease for a worldwide research clientele. The focus of the business is on finding and nurturing productive research collaborations that promote scientific advances.

Founded in 2002, PolyGene is run by an international team of scientists with academic and industrial backgrounds, having notable track records in mouse transgenesis as well as in business management.

PolyGene is configured to contribute actively as an R&D intensive SME partner to EU initiatives such as the CAM-Pac initiative targeting pancreatic cancer. Working with scientists from University of Munich, PolyGene has played a key role in CAM-Pac, by helping to pioneer a novel mouse model that makes sequential genetic manipulation of gene expression and targeting of the host possible for the first time by using an inducible dual-recombinase system.

PolyGene is also a participant in other pan European projects such a Horizon 2020, Eurostars, IMI, etc., with an impressive track record of partnering in projects such as CarTarDis (Cardiovascular Target Discovery), SYBIL (studying the genetic causes of skeletal diseases) and TumAdoR (focusing on development of human therapeutic monoclonal antibodies to neutralize immunosuppressive cancer pathways).

PolyGene is a fully functional production site for the establishment and target validation of transgenic and knockout mouse lines, and also offers co-development opportunities in model building, including rat and rabbit models. PolyGene provides one of the in the world’s most highly regarded professional transgenic services, with over 330 completed customer projects and more than 750 individual mouse lines generated to date.

PolyGene’s strong IP portfolio includes patent rights on innovative antibiotic-inducible expression systems, used exclusively for transgenic service projects, such as the murine recombinant Leukemia Inhibitory Factor ESLIF that PolyGene has developed for the generation of highly chimeric mice.

PolyGene also offers services in speed congenics, inducible expression systems and gene targeting.


SYBIL (Systems biology for the functional validation of genetic determinants of skeletal diseases) is a a five year project funded by the European Commission that aims functionally to validate genetic determinants of common and rare skeletal diseases to gain a mechanistic understanding of disease processes and age-related changes and to deliver new and validated therapeutic targets.

SYBIL brings together a complementary translational and transnational group of world-class scientists, systems biologists, disease modelers, information technologists and industrialists that will achieve critical mass to deliver the research program’s ambitious objectives.

Skeletal diseases range from a large and diverse group of rare monogenic diseases (such as chondrodysplasias) to highly prevalent but genetically complex diseases such as osteoarthritis (OA) and osteoporosis (OP). Rare skeletal diseases (RSDs) are an extremely diverse group of diseases that primarily affect the development skeleton. There are more than 450 unique and well-characterized phenotypes that range in severity from relatively mild to lethal forms. As a group, RSDs have an overall prevalence of at least 1 per 4,000 children, which extrapolates to a minimum of 225,000 people in the 27 member states and candidate countries of the EU.

The overall concept of this FP7-funded project is to study the genetic causes of both rare and common skeletal diseases in order to gain a better understanding of the disease processes and age-related changes. This fundamental research will help to deliver new and validated therapeutic targets that will eventually stimulate new therapies for these debilitating diseases.

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