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PhenoSystems was work package leader for bioinformatics in the NMDchip project which finished successfully end of 2011.
Today, at the end of the project, the two first generations of CGH NMD-chips including all the known genes have been validated, and it is proposed that they become part of the diagnostics workflow to progressively replace the current techniques. The capture chips have been compared with the "in-solution" capture tools that have emerged as an alternative solution during the past two years. Due to the rapid advances of technology, this part of the work has not been completely resolved and it is still unclear whether one approach is better than the other. The CGH chips have been validated on previously characterised DNA with several deletions or insertions in LAMA2, DYSF, CAPN, DMD, PMP22, COL6A genes and others. Several uncharacterised patients have been provided with a molecular diagnosis, thus making the project a success.
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PhenoSystems participates in Gen2phen to support the information exchange between molecular diagnostics laboratories and the research community. We have thus developed with University of Leicester the concept of a mutation market place to facilitate the exchange of information between many laboratories and many LSDBs. This concept has evolved into Cafe Variome.
Phenosystems participates in capHIV to develop an ultra sensitive detection device for HIV (p24 protein) in blood samples. The project is part of the 'Research for SMEs' program of FP7.
The most commonly used and widely accessible diagnostic tests rely on the presence of HIV antibodies. Seroconversion, however, can take up to six months which prevents the early detection of the infection. Moreover, newborns cannot be tested with these methods due to maternal antibodies masking their true HIV status.
The CAPHIV project aims at developing a quick and automatic biosensor that targets the detection of a protein produced in the early stages of the disease and not that of an antibody. The device is expected to diagnose the disease within two weeks of the infection. The applied technology is to reduce measurement time and reduce costs associated with HIV testing.
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You can find here a list compiled with the support of Gen2Phen and HGVS, it is directly connected to the central database of LSDBs and updated regularly.
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Phenosystems participates actively in various European research projects funded by the EU under FP7. We are under negociation for the follow-up demo project to capHIV with SME specific instruments managed by the REA.
Horizon2020 has now taken off! We are looking forward in participating to various calls. If you are looking for a competent SME partner with a track record of successes since FP6 in the field of software development for diagnostics and molecular genomics, we would like to hear from you!