Genomenon and the Pharming Group have partnered to make variant data on the PIK3CD and PIK3R1 genes available to genetic testing labs and clinicians worldwide, Pharming announced recently.
Genomenon data will enable accurate molecular diagnoses and support precise medical management of activated PI3K delta syndrome (APDS), a rare primary immunodeficiency. The partnership also will improve resolution variants of uncertain significance and advance Genomenon’s mission to curate the human genome, Pharming said.
APDS was first characterized in 2013. It can lead to abnormal development and function of immune cells, immunodeficiency, and immune dysregulation. Although APDS severity varies, individuals with the disorder can develop recurrent, severe infections, bronchiectasis, lymphoproliferation, and even lymphoma. Currently, patients typically experience a median 7-year diagnostic delay.
The partnership will help Pharming provide clinicians and genetic testing laboratories access to comprehensive PIK3CD and PIK3R1 variant data through Genomenon’s Mastermind platform. Mastermind offers variant landscapes of all published variants in association with activated APDS. Variants are summarized and classified using molecular pathology guidelines from the American College of Medical Genetics and Association for Molecular Pathology.
Pharming said the partnership will help labs and clinicians ensure patients with APDS receive earlier, more accurate molecular diagnoses, and ultimately, appropriate medical management.
Genomenon officials said the partnership has the potential to enhance validation, diagnostic developments, and patient identification for precision medicine.
CCollaboration focuses on NGS library preparation
Beckman Coulter Life Sciences recently announced a collaborative partnership with Watchmaker Genomics to deliver robust, reliable automated liquid handling solutions that enable labs to streamline operations and generate consistent results.
As part of the agreement, the two companies will codevelop methods for next-generation sequencing (NGS) library preparation, using Watchmaker’s portfolio of rapid and highly sensitive DNA and RNA solutions on the Biomek i7 Dual Hybrid Liquid Handler from Beckman Coulter Life Sciences.
One of the first outputs of this collaboration will be an RNA library preparation method that enables walkaway automated processing of up to 96 libraries in under 8 hours. The method will use the Watchmaker RNA Library Prep Kit with Polaris Depletion and support clinically relevant samples. These include formalin-fixed and paraffin-embedded samples, as well as samples with input amounts as low as 1 ng.
Watchmaker officials said that the collaboration will ultimately save users time and operational bandwidth while improving data quality. Beckman Coulter said the partnership advances its mission to harness the benefits of automation to accelerate research discoveries, including for NGS, sample management, drug discovery, functional screening, synthetic biology, and proteomics.
Bio-Techne announces new distribution agreement with Thermo Fisher Scientific
The global life sciences company Bio-Techne Corporation recently announced plans to enter a strategic distribution agreement in Europe with Thermo Fisher Scientific.
Under the agreement, Thermo Fisher will distribute Bio-Techne’s products — including antibodies, proteins, immunoassay kits, reagents, and enzymes — to labs and research institutions across Europe. Bio-Techne said the products are designed to accelerate research and improve outcomes in cell and gene therapy, immunology, and neuroscience.
Bio-Techne officials said the agreement will enhance its ability to provide customers with the latest technologies and expertise while Thermo Fisher hopes to further empower scientists with tools to drive discoveries and advances in healthcare.
Immy acquires OLM Diagnostics
IMMY recently announced acquisition of United Kingdom-based OLM Diagnostics.
IMMY specializes in fungal diagnostics and OLM works in molecular diagnostics with a focus on including PCR assays for underserved medical areas.
Through the acquisition, the companies aim to improve and better customize customer service for patients.
IMMY officials said the acquisition expands their company’s product portfolio and commitment to empowering laboratorians and clinicians with cutting-edge tools for precise identification of fungal disease.
U.S. court approves Invitae sale to Labcorp
Labcorp and Invitae have announced U.S. Bankruptcy Court approval of a bid by Labcorp to acquire Invitae assets, the companies announced recently.
Labcorp noted the advanced genomics-based testing solutions in Invitae’s network will complement its genetic screening, diagnostics, and specialty testing. Invitae called the court approval of the sale a positive step in its restructuring process.
Both companies said they expected the transaction to bolster Labcorp’s genetic specialty testing capabilities, especially in oncology and rare diseases. The deal also is expected to strengthen Labcorp’s ability to use genetic data to enhance and support clinical trials and treatment regimens, the companies said.
The companies anticipate the sale will be completed in the third quarter of 2024, subject to customary closing conditions and applicable regulatory approvals.
Arbor Biotechnologies acquires Serendipity Biosciences
Arbor Biotechnologies recently announced acquisition of Serendipity Biosciences, a private company focused on unique gene-editing technologies.
Serendipity’s assets include editing technologies such as Fanzor and Isr-B. They complement and expand Arbor’s existing editing capabilities and may result in new therapeutic applications for Arbor’s portfolio of genomic medicines, the company said.
The technologies build on CRISPR-Cas approaches by harnessing next-generation components to enhance Arbor’s reverse transcriptase editing, as well as insertion of exons or entire genes in vivo through unique cutting properties. Other expected improvements include expanded genomic targeting and enabling delivery through adeno-associated virus vectors and other size-constrained delivery vehicles, Arbor officials said.