The new carrier test aims to detect the most common mutations associated with autosomal recessive disorders in the Hutterite population. The test can be used in population-based carrier screening for 30 different syndromes. Carrier testing is vital for counseling individuals with a family history of severe diseases in order to assess reproductive risks.
New article on Lynch syndrome mutations
Published 14/10/2013A new article on Lynch syndrome mutations shared by the Baltic States has been released with the participation of Asper Biotech’s researchers. The study supports the idea that populations from neighboring countries can share genetic alterations in MMR genes as 20% of families from Estonia, Latvia and Lithuania with known MMR pathogenic changes carry mutation detected previously in Poland.
For the original article published by Clinical Genetics: Lynch syndrome mutations shared by the Baltic States and Poland
Updated version of XLRP test
Published 08/10/2013X-linked retinitis pigmentosa test has come through a profound update. In addition to analysis of 187 mutations in the RP2 and RPGR genes by APEX technology, the testing now includes mutation detection in the ORF15 region, as well as exon 15a and exon 15b deletions in the RPGR gene. The ORF15 region is detected by Sanger sequencing and can be ordered separately.
Asper Biotech’s new collaboration project
Published 02/10/2013Asper Biotech is participating in a new collaboration project PREDICTION-ADR – Personalisation of tREatment In Cardiovascular disease through next generation sequencing in Adverse Drug Reactions. The new European-wide study led by the University of Dundee is set to investigate whether genetic research could be used to predict the side effects of statins and ACE inhibitors.
“Statins and ACE inhibitors are the most effective drugs at preventing cardiovascular disease, but they need to be used better,” said Professor Colin Palmer, from the University of Dundee, who is leading the study.
With the advent of affordable whole genome sequencing, genetic research is now at the point where it can be effectively used to identify `biomarkers’ which signal whether a patient can take the drugs safely or not.
The aim of the trial is to identify reliable biomarkers, which could then be developed into a commercially available clinical test. Partners of the study include the Universities of Liverpool, Utrecht, Uppsala and the private sector firm PGXIS. The study is funded with a €3million grant through the European Union FP7 Health project.