A new collaboration between Oxford Nanopore Technologies and Auragen will focus on developing assays that deliver more accurate and reliable reproductive health and carrier screening results, the companies recently announced. Using Asuragen’s PCR technology and Oxford Nanopore’s any-read-length DNA sequencing capabilities, the companies aim to develop a sequencing system to identify the most challenging, high-prevalence carrier genes within a single, unified workstream.
American College of Medical Genetics and Genomics 2021 guidelines suggest that all prospective parents get screening for 100 genes, regardless of their ancestry or ethnicity. More than a dozen of these genes require multiple cumbersome, time-consuming assays that rely on different technologies and expertise to identify all pathogenic variants. Additionally, traditional sequencing carrier screening methods cannot effectively resolve tandem repeats, copy number variations, pseudogenes, and structural variations.
Asuragen and Oxford Nanopore aim to develop a wet and dry bench kit for genotyping 11 genes commonly covered by carrier screening, including eight that are especially difficult to analyze.
According to Oxford Nanopore officials, a significant fraction of all disease-causing variants involve substitutions larger than a single base pair. The company’s nanopore-based sequencing can quickly and accurately characterize variants of interest throughout the genome.
Officials from Bio-Techne, Asuragen’s parent company, also said the collaboration will leverage the best of its AmplideX PCR and nanopore-based sequencing.
EXCLUSIVE LICENSING AGREEMENT FOR DIGITAL PCR APPLICATIONS ANNOUNCED
Bio-Rad Laboratories and NuProbe USA have announced the signing of a licensing agreement aimed at developing multiplexed digital PCR assays. Under the terms of the agreement, NuProbe will exclusively license its allele enrichment technologies to Bio-Rad for the development of these tests.
This new technology will help to advance Bio-Rad’s menu of products in oncology, where highly-sensitive and multiplexed mutation detection assays aid translational research, therapy selection, and disease monitoring, Bio-Rad officials said. They added that the deal will help the company provide oncology researchers with technologies that enable biomarker discovery, clinical trials, and patient monitoring of minimal residual disease.
NuProbe officials said the quantitation abilities of Bio-Rad's digital PCR platforms are a “great fit” for NuProbe’s allele enrichment technologies. Bio-Rad’s Droplet Digital PCR has been cited in more than 6,300 publications, including more than 800 clinical research citations, the company said.
NuProbe, on the other hand, has developed and optimized its Blocker Displacement Amplification (BDA) technology as a PCR method in which variant DNA alleles are enriched over 1,000-fold over wild-type alleles. BDA technology has been experimentally validated on hundreds of clinical samples across multiple platforms, including quantitative PCR, digital PCR, Sanger sequencing, sequencing-by-synthesis, and nanopore sequencing.
GENOMENON PARTNERS WITH RARE DISEASE FOUNDATIONS TO ADVANCE PRECISION DRUG DEVELOPMENT
The artificial intelligence-driven company Genomenon is collaborating with three foundations and their pharmaceutical industry partners with the intention of speeding development of precision medicine to treat rare neurodevelopmental disorders. The three foundations are COMBINEDBrain, SynGAP Research Fund, and SLC-6A1 Connect. Genomenon will provide them with currently missing evidence about many clinically encountered variants. This information is essential to developing treatments for genetic disorders, according to Genomenon.
COMBINEDBrain focuses on treatments for people with severe rare neurodevelopmental disorders by pooling efforts, studies, and data. SynGAP Research Fund is devoted to science to cure SynGAP, a rare disorder that can cause intellectual disability, low muscle tone, speech delays, and epilepsy. SLC-6A1 Connect is focused on a cure for children with pathogenic variants in the SLC6A1 gene that cause a spectrum of neurodevelopmental disorders that can include intellectual disability, severe movement and speech disorders, and seizures.
Genomenon officials said that the new venture represents “a shared mission to ensure that no patient goes undiagnosed or untreated.”
DETACT DIAGNOSTICS OPENS FIRST U.S. OPERATIONAL LAB
Detact Diagnostics, a Netherlands-based life sciences company that develops diagnostic tests for the health and food sector, has opened its first U.S. operational laboratory in New Hampshire. The lab will serve as a diagnostics research and development space and will roll out bacterial diagnostics clinical testing in the coming months once it receives federal certification.
Detact Diagnostics offers the patented platform technology VIPER (Visualization by Infrared Peptide Reaction). VIPER involves the immediate release of a quenched near-infrared (NIR) molecule from its peptide bond after contact with a specific bacteria or enzyme, which emits NIR-light. The amount of light released determines the presence of bacteria or viruses. Due to its speed, precision, and sensitivity, even with very diluted samples, the potential of this technology is superior compared with other testing products, according to the company.
GI SPECIALTY PRACTICE RECOGNIZED AS ROCHE DIAGNOSTICS CENTER OF EXCELLENCE
Capital Digestive Care, the largest gastroenterology (GI) group in the mid-Atlantic states, recently announced that its new laboratory has been recognized as a Roche Diagnostics Center of Excellence. The organization said that it is the first GI specialty practice in the United States to earn this designation, which recognizes expertise in delivering quality data by using advanced technologies and diagnostic tools that also improve patient care.
The practice added that it provides fast, accurate results, as well as convenience because it completes 98% of testing in less than 48 hours. An expert team of GI-focused pathologists and board-certified laboratory scientists handle the processing of more than 125,000 biopsy specimens and 180,000 additional diagnostic studies per year.
In collaboration with Capital Digestive Care’s affiliate Chevy Chase Clinical Research, the practice and Roche Diagnostics will work together to support the development and testing of next-generation diagnostic tools to advance care for patients.