Emily Carter

On our way to IVDR Compliance

We are very happy to announce that TÜV SÜD has verified the update of our quality management system to the latest revision – ISO13485:2016! This is the first milestone in our compliance and transition from the previous IVD Directive (IVDD) to the newly adopted IVD Regulation (IVDR).

Simplify Gene Transcript Selection Using MANE Transcripts

For many genes, choosing the most optimal transcript for a specific analysis is a complex task. This is due to two main factors. Firstly, the frequently large number of transcripts listed for a certain gene, and also because gene browsers are inconsistent in the definition of which transcripts are considered to be “default”. NCBI (RefSeq) …

Simplify Gene Transcript Selection Using MANE Transcripts Read More »

Clinical trials highlights the importance of correct CFTR mutation detection in cystic fibrosis patients

Cystic Fibrosis is one of the most common genetic disorders. The disease is caused by mutations within the cystic fibrosis transmembrane conductance regulator gene (CFTR) leading to gradually decreasing lung function in affected patients. Current treatment protocols include symptomatic treatments for cystic fibrosis and a CFTR potentiator (Ivacaftor), which increases CFTR channel opening at the …

Clinical trials highlights the importance of correct CFTR mutation detection in cystic fibrosis patients Read More »

No Significant Reduction in Miscarriage Rates from NIPT Pre-Screening for Trisomy 21 as compared to invasive testing

A recent paper published by Malan et al in the Journal of the American Medical Association (JAMA) describes a clinical study conducted over two years looking into the potential for reducing risk of miscarriage when performing cell-free fetal DNA (cfDNA) testing, NIPT testing, as compared to invasive fetal testing procedures. It has been hypothesised that …

No Significant Reduction in Miscarriage Rates from NIPT Pre-Screening for Trisomy 21 as compared to invasive testing Read More »

Visit Us at ASHG 2018!

Devyser is excited to be attending this years ASHG event in San Diego, next week. As one of the major events in the American continent we look forward to attending some interesting presentations, and members of our staff will also be presenting two posters. Come and visit us in booth #945 and say hi, or …

Visit Us at ASHG 2018! Read More »

CRISPR Helps BRCA1 Researchers Determine Functional And Non-Functional Mutations

BRCA1 variants may generally be divided into three categories: benign variants, which cause no clinical concern; deleterious variants, which are associated with high risk of cancer and variants of uncertain significance (VUS). Although millions of women worldwide have been sequenced for BRCA1 and 2, VUS continue to pose an important clinical problem for geneticists when …

CRISPR Helps BRCA1 Researchers Determine Functional And Non-Functional Mutations Read More »

Familial Hypercholesterolemia Awareness Day 2018

Familial Hypercholesterolemia (FH) is an hereditary disease which, despite being treatable, is vastly underdiagnosed. Individuals with FH have a reduced ability to remove LDL-cholesterol from the blood, and an increased risk of heart disease, stroke, and potentially fatal cardiac events. September 24th is FH Awareness Day, where the aim is to raise awareness and understanding …

Familial Hypercholesterolemia Awareness Day 2018 Read More »

New Technique for Measuring Gene Expression Dynamics

A recent publication in Nature highlights recent research by a collaborative team from Karolinska Institute, Stockholm, and Harvard Medical School, Boston. To understand the function of complex tissues over time, scientists have succeeded in taking expression snapshots of various genes within tissues. However, until now tools for measuring the complex interplay of the more than …

New Technique for Measuring Gene Expression Dynamics Read More »