Genomenon and Alexion, AstraZeneca Rare Disease have announced a collaboration intended to make critical information for the diagnosis and treatment of certain rare diseases more readily accessible.

The average path to rare disease diagnosis lasts 7 years due to the lack of information on these conditions, which can result in missed intervention opportunities. Once a diagnosis is made, the lack of information on available therapies leaves patients and their caregivers with limited options.

The collaboration’s goal is to empower genetic testing labs with the data they need to diagnose rare diseases. Working with Alexion, Genomenon is using its artificial intelligence-driven genomic technology to produce a complete “genomic landscape” for an initial group of rare diseases that includes Wilson disease, complement-mediated thrombotic microangiopathy, lysosomal acid lipase deficiency, and hypophosphatasia.

The landscape encompasses an expertly curated genetic dataset for these rare conditions, along with information on available therapies or clinical trials, to be made available to doctors, researchers, and clinicians through Genomenon’s Mastermind Genomic Search Engine. More than 1,000 genetic testing laboratories and medical centers across the globe, Mastermind is connecting patient DNA to relevant scientific research to make diagnosis and treatment decisions. Mastermind information about potential treatment options and open drug trials can be easily exported into clinical reports. 

Sebia and Metafora Biosystems Strategic Partnership Aims to Develop Advanced In Vitro Diagnostics

Sebia and Metafora Biosystems have announced a strategic partnership to develop a portfolio of in vitro diagnostic solutions based on Metafora’s technology platform.

Metafora leverages a single-cell artificial intelligence-powered diagnostic platform to detect cellular anomalies, while Sebia specializes in diagnostics for myeloma and chronic diseases. The companies said that the partnership would benefit the hematology-oncology field, which suffers from a lack of robust tests.

Metafora officials said that Sebia’s investment allows their company to accelerate research and development, with an eye toward launching new products through 2023.

Sebia officials said the partnership’s initial focus would be multiple myeloma. They noted that the partnership expands Sebia’s electrophoresis and mass spectrometry technologies and would allow diagnosis and monitoring of other cancers and chronic diseases.

Jumpcode Genomics and the Translational Genomics Research Institute Partner to Focus on Genomic Sequencing of SARS-CoV-2

new collaboration between Jumpcode Genomics and the Translational Genomics Research Institute (TGen) aims to aid investigations into the genomic epidemiology of SARS-CoV-2.

The collaboration leverages Jumpcode’s CRISPRclean technology for genomic sequencing to help identify and track SARS-CoV-2 variants. Jumpcode Genomics and TGen are validating novel solutions and clinical services that leverage metagenomic sequencing and analysis to facilitate detection of COVID-19 and other infectious diseases.

TGen officials said the partnership could help identify new SARS-CoV-2 variants and related viruses, enable better tracking of existing strains’ spread, and help inform public health efforts to prevent future infectious disease outbreaks.

Jumpcode combines CRISPR-based technology with next-generation sequencing to remove unwanted sequences, thereby increasing sensitivity and enabling more efficient and cost-effective sequencing. This approach empowers scientists to obtain better data, extract more relevant information about the nature of an infection, and ultimately identify unique aspects of an infection that would have otherwise been undetected.

TGen is testing the potential of Jumpcode’s CRISPRclean-mediated depletion reagents in combination with its laboratory’s technologies, including protocols involving a diagnostic assay using the CRISPRclean reagents and algorithms for analyzing the resulting metagenomic sequence data. Expanded prospective clinical and epidemiological studies are planned to prove the diagnostic assay’s utility in routine patient testing for infectious diseases.

Siemens Healthineers and A1 Life Sciences Agreement Aims to Help Track SARS-CoV-2 Variants

Siemens Healthineers has announced a collaboration with A1 Life Sciences to support global efforts to track variants of SARS-CoV-2.

Siemens Healthineers will now offer A1 Life Sciences’ Diagnovital kits, which are designed to detect and identify SARS-CoV-2 mutations and variants. A1 Life Sciences’ Diagnovital portfolio, as distributed by Siemens Healthineers, will be offered for research use only around the world, but will not be offered initially in the U.S.

This portfolio of A1 Life Sciences’ Diagnovital kits will complement Siemens’ FTD SARS-CoV-2 assay, which is intended for the initial diagnosis of the infection. If a sample is identified as positive by the FTD SARS-CoV-2 assay, then the residual extracted nucleic acid from the original sample can be reflex tested by the appropriate A1 Life Sciences’ Diagnovital kit or combination of kits to identify if the positive sample harbors a mutation or is a variant.

With single-mutation formatted assays, like those in the A1 Life Sciences’ Diagnovital portfolio, laboratories can select from individual assays to create their appropriate testing scheme based on mutations prevalent in their region, Siemens Healthineers said.

Agreement Between Roche and TIB Molbiol Expands PCR Test Portfolio

Roche has announced a definitive share purchase agreement to acquire 100% of the outstanding shares of the TIB Molbiol Group, with close of the transaction expected in the fourth quarter of 2021.

The acquisition of the TIB Molbiol Group will expand Roche’s broad portfolio of molecular diagnostics solutions with a wide range of assays for infectious diseases, such as COVID-19. TIB Molbiol’s comprehensive portfolio of more than 45 CE-marked in vitro diagnostic assays and more than 100 research-use assays is already available on Roche’s large installed base of LightCycler PCR systems and MagNA Pure sample preparation systems.

The two companies have collaborated for more than 20 years to rapidly address critical healthcare needs including biological threats such as SARS, anthrax, avian influenza virus H5N1, MERS, the novel influenza virus H1N1 swine, Ebola virus, Zika virus, and most recently, the SARS-CoV-2 virus and its variants. At the onset of the COVID-19 pandemic, the company’s collaboration provided the first research-use only SARS-CoV-2 detection test in January 2020, only days after the new coronavirus was first sequenced, Roche officials said.