Simultaneous CNV and Mutation Detection Method; AI-Enhanced Brain Imaging; More

April 28, 2022 | T-cell receptor engineering for cancer treatment, and cardiovascular disease drug development; new genomics efforts in Brazil; laboratory automation and risk management solutions; and more.

TeselaGen Biotechnology released its Community Edition, a powerful, easy-to-use version of its popular DESIGN Module within the TeselaGen Operating System for biotechnology. The free, cloud-based software gives access to previously unavailable tools for designing DNA constructs or DNA assemblies, designing primers, and visualizing and editing DNA plasmids. The TeselaGen Community Edition is a unified suite of tools for biodesign that reduces the time it takes to generate DNA assembly protocols and makes collaboration across departments and organizations easier. It features a modern open-source vector editor for visually editing and annotating DNA and protein sequences, managing restriction enzymes, and creating usable design parts. The tool also manages DNA, amino acid, and oligo sequences and has a powerful auto annotation feature for cleansing and curating feature annotation. With support for the most advanced DNA assembly algorithms, the Community Edition automatically generates protocols for building a scar-less DNA construct by automatically designing PCR primers for sourcing assembly fragments or specifying synthons for ordering from a DNA vendor like Twist or IDT. Press release.

iSpecimen unveiled its enhanced iSpecimen Marketplace platform. The new software includes improved search and supplier data integration capabilities designed to efficiently connect scientists with well-matched samples for their research and to help increase supplier inventory utilization. The platform’s redesigned, easy-to-use interface allows researchers to directly search for desired samples in iSpecimen’s provider network via a Google-like search bar. The iSpecimen Marketplace also includes new features that enable specimen providers, including biobanks, to more effectively provide their specimens to researchers. Additionally, new data integration capabilities, such as automated data harmonization and ingestion tools, allow healthcare providers’ inventories to be added quickly and maintained easily. Access to the iSpecimen Marketplace platform is free for participating suppliers and researchers alike upon signup. Press release.

BD launched of a new family of fluorochrome reagents to improve data resolution compared to traditional fluorochromes, made possible by novel dye technology and artificial intelligence (AI) guidance. The launch of BD Horizon RealYellow 586 Reagents marks the first fluorochrome in a series from the new BD Horizon RealYellow and RealBlue Reagents product family. BD Horizon RealYellow and RealBlue Reagents were developed using novel BD dye technology and an AI-guided approach to selecting the optimal fluorochrome positions. The AI analyzed existing data from excitation and emission profiles of current commercially available fluorochromes, then identified the optimal positions in laser lines for new dyes to be developed. The BD Research and Development team then developed dyes to fit these profiles using a novel BD dye technology. This combination of next-generation dye technology and AI guidance makes the BD Horizon RealYellow and RealBlue Reagents the first of their kind. BD Horizon RealYellow 586 Reagents are now available globally online and through local sales representatives. Additional BD Horizon RealYellow and RealBlue Reagents will be made available soon. Press release.

Caris Life Sciences opened a new liquid biopsy laboratory in Phoenix, Arizona to further expand the company’s molecular profiling capabilities, which include tumor profiling and innovative blood-based cancer diagnostics. This $45 million investment in the company’s laboratory facilities will enable the company to continue to develop and launch its blood-based diagnostic assay, Caris Assure. Caris Assure sequences the complete coding region of a gene as well as all the RNAs being expressed. The opening of the new laboratory will create hundreds of new bioscience job opportunities in Phoenix. The state-of-the-art lab is one of the largest high-throughput sequencing facilities in the world and will provide profiling on blood specimens for up to 1,500 patients per day. Press release.

Dotmatics was announced as the formal name and brand for the combined entities of Insightful Science and Dotmatics. As the Insightful Science brand is retired, the new Dotmatics company is now inclusive of the Dotmatics’ enterprise scientific platform and many of scientists’ favorite applications including SnapGene, Geneious, and GraphPad Prism to offer end-to-end solutions for biology, chemistry, and formulations research and development. Following the merger of Insightful Science and Dotmatics in March 2021, a global team of 800+ employees support its customers in more than 180 countries. Dotmatics has recently added strategic executive hires including a CFO, CRO, and CMO and will continue to build and acquire leading scientific software applications that are critical in lab research. For more information about Dotmatics visit the newly launched and rebranded Dotmatics.com or visit them at booth 612 at the upcoming Bio-IT World Conference & Expo in Boston, MA, May 3-5. Press release.

Seven Bridges, the University of São Paulo (USP), Google Cloud, as well as the Associação Genomas Brasil (Brazil Genome Association), are collaborating to assist the DNA do Brasil (DNABr) project in building a reference genome that represents the genetic diversity of the Brazilian population. Currently, the human reference genome is based primarily on sequencing data acquired from people of European ancestry, making it challenging to identify and treat diseases in the Brazilian population, whose genome is an admixture of Native Americans, Europeans, and sub-Saharan Africans. DNABr will use the Seven Bridges GRAF Suite to construct an accurate and representative genome graph reference to identify the genetic variations across this heterogeneous and admixed population. Google Cloud will provide significant computational and storage resources to process the vast amounts of whole genome sequencing data needed to build this ancestry-aware reference. The DNABr project, led by Lygia da Veiga Pereira, PhD, Tábita Hünemeier, PhD, Department of Genetics and Evolutionary Biology, Institute of Biosciences at USP, and Alexandre Pereira, PhD, Harvard Medical School, plans to sequence the genomes of 15,000 Brazilians utilizing blood samples from several longitudinal studies in the country. Press release.

Scitara has announced a collaboration with PerkinElmer. The move will support the integration of the PerkinElmer Signals Research Suite informatics platform, which provides seamless, end-to-end scientific data and workflow management, with laboratory instruments, applications, and resources via the Scitara Scientific Integration Platform SIP. The Scitara SIP provides a universal connectivity solution in a cloud-native infrastructure that allows scientific laboratories using the PerkinElmer Signals platform to realize the full benefits of digital transformation. The combination of technologies facilitates a fully connected laboratory with standard data integrity, data mobility, system flexibility and user reconfigurability. This new connectivity aligns with PerkinElmer’s strategy of using its informatics offerings to drive digital transformation in the lab. The ability to integrate the SIP infrastructure with the PerkinElmer Signals Research platform presents a new approach to data management that will enhance collaboration and drive lab automation. Integrated scientific data can also be used in tandem with AI and analytics tools, providing scientists with new insights to drive faster decision making and turn data into knowledge, helping accelerate products to market. Press release.

To help global enterprises navigate the ever-evolving risk and compliance landscape, Enablon released Version 9.4 of its integrated risk management platform. Designed for organizations of all sizes, Version 9.4 of the Enablon Vision Platform features enhancements that will enable greater collaboration and integration, streamline communications and mobility, and more. Version 9.4 of the Enablon Vision Platform empowers organizations to collaborate in a new way to manage risk. It builds on a foundation that’s designed to deliver a comprehensive 360° view of risk by breaking down silos between EHS, risk, sustainability, and compliance; integrating processes of safety, risk, and operations; connecting workers through mobility; and predicting and preventing incidents. Press release.

Lifespin GmbH, a deep data company that is mapping human health and building an innovative health diagnostic testing platform based on metabolomics, announced that it has formally established a U.S. entity, Lifespin, incorporated in Delaware and based initially in Boston (MA), to accelerate the company’s access to U.S. healthcare market opportunities, clinical research partners, and investors. Lifespin is developing a groundbreaking diagnostic testing platform that utilizes Artificial Intelligence and Machine Learning to quantitatively identify variations in a person’s metabolism from the healthy baseline based on Lifespin’s proprietary database to help clinicians, for example, to diagnose diseases earlier. Lifespin combines biology, Deep Data, artificial intelligence and cloud technologies to enable digital metabolic insights for precision diagnostics including personalized disease management; precision drug monitoring for pharmaceutical, research and clinical settings; and precision nutrition for diabetes, obesity, diet and lifestyle interventions. The first commercial product in the regulated space will be software algorithms for health testing scalable via the cloud as Software-as-a-Service (SaaS). This is expected to launch in Europe later this year as a laboratory-developed test for clinical evaluation of Multiple Sclerosis, and later in the United States, followed by a test for Parkinson's Disease in 2023. Press release.

Illumina announced the launch of its new state-of-the-art Solution Center in São Paulo, Brazil. The choice to bring the facility to Brazil reflects an increasing demand for and interest in clinical genomics, as well as Illumina's longstanding commitment to expanding global access to genomics in Latin America. Illumina's customers and partners in Brazil span basic research, applied markets, and, increasingly, clinical labs and healthcare institutions. The new Solution Center will enable Illumina to offer its partners an ideal environment for demonstrations and training sessions to optimize their education and experience with next-generation sequencing and array technologies. In addition, to help combat the pandemic in Brazil, Illumina partnered with the Ministry of Health to build a comprehensive public health network for tracking the spread of the virus. Throughout Brazil, 26 laboratories out of 28 use Illumina's sequencing systems. The 11,000 square-foot site features a fully operational lab equipped with cutting-edge Illumina technology to help train customers and partners throughout Brazil and Latin America. Press release.

Crosscope a provider of AI-enabled digital pathology software and Waleed Pharmacy & Stores LLC an Omar Zawawi Establishment group company focused on bringing healthcare, hospital, and pharmaceutical solutions to Oman (officially the Sultanate of Oman), signed a Memorandum of Understanding to enable next-generation transformation in the Histopathology Landscape using the Crosscope AI-enabled digital pathology platform. Together they plan to bring state-of-the-art technological solutions to Oman enabling their commercialization to deliver comprehensive cancer care, thereby reducing the cancer burden in Oman. Along with this partnership, Waleed Pharmacy will be an official representative of Crosscope in the Oman region. Both the organizations intend to bring state-of-the-art comprehensive Digital Pathology Platform, AI, and ML tools for cancer diagnostic service providers. Press release.

Synthace announced a collaboration with the UCL SPiDER Group. The collaboration will address how automation solutions can be used in shared physical and digital spaces for educational and research purposes. UCL researchers will be leveraging Synthace’s pioneering no-code automation R&D platform to automate routine tasks and design workflows while working from any location as well as utilizing rarely used equipment without the need for custom code. This will let them build durable experimental designs that can be simulated remotely and then passed on for testing and implementation on their existing automation platforms. By employing Synthace’s platform, UCL’s researchers will be able to reduce the chances for human error by utilizing standard biological experimentation in a way that can be reliably automated in the lab. It also has the added benefit of allowing for “walk-up” automation services, meaning that groups across UCL can easily access and benefit from the same equipment. Press release.

Paige, a provider of clinical AI applications in pathology, received CE-IVD and UKCA marks for Paige Breast Lymph Node, their newly launched AI medical device software that helps pathologists detect whether breast cancer has metastasized to lymph nodes, concurrent with pathologists’ own interpretive review. With the CE-IVD and UKCA designations, laboratories and hospitals in the European Economic Area, Switzerland, and the UK can now use the product in the course of clinical diagnosis. Paige Breast Lymph Node uses the same underlying AI technology as Paige Prostate and can be deployed in any laboratory or hospital setting that is on the Paige Platform. Press release.

NuProbe, a global genomics and molecular diagnostics company, published data in Nature Communications describing the use of Quantitative Amplicon Sequencing (QASeq) to simultaneously detect copy number variations (CNVs) and mutations from the same sample. The results show detection of CNVs down to 5% heterozygous single copy gain or loss, and mutations down to 0.1% variant allele frequency (VAF), from both formalin-fixed, paraffin-embedded (FFPE) tissue samples and from cell-free DNA (cfDNA) samples. CNVs are an important class of DNA biomarkers for cancer. Depending on the exact type of cancer, CNVs can be present in up to 98% of patients and can influence therapy selection and prognosis prediction. CNVs are currently detected using fluorescence in situ hybridization (FISH) or digital droplet PCR (ddPCR). However, these methods are limited in their multiplexing, and typically no more than about 4 genes can be profiled for CNVs with these methods. Furthermore, these methods cannot be used for profiling DNA mutations from the same samples. Consequently, comprehensive DNA profiling of many genes would require larger input quantities of patient DNA, which are often not available. Press release.

ClearSky Medical Diagnostics has developed an intelligent medical device that can objectively diagnose mild cognitive impairment (MCI), a condition often suggested as an early stage of dementia. It is estimated that between five and 20 per cent of people aged over 65 have MCI, characterized by minor problems with cognition, such as memory or thinking. The prototype diagnostic device, MCI-Monitor, is worn by a patient while performing a “reach and grasp task”. The kinematic characteristics of reach-to-grasp actions and the visual attention while performing the task are captured by the MCI-Monitor and measured using AI-powered technology. ClearSky’s initial studies have suggested that MCI-Monitor is able to differentiate between Parkinson’s with normal cognition, PD-MCI (Parkinson’s Disease MCI), and PDD (Parkinson’s Disease Dementia). The company, which already has launched two CE-marked diagnostic and monitoring devices PD-Monitor and LID-Monitor, is now seeking partners to collaborate on the development and launch of MCI-Monitor to the general population. Press release.

Valo Health has acquired TARA Biosystems, a New York City-based cardiovascular disease biotechnology company, creating the first of its kind vertically integrated cardiovascular drug discovery and development platform. The combination of TARA's proprietary human three-dimensional tissue engineering and cardiac disease modeling capabilities with Valo's Opal Computational Platform positions Valo to transform cardiovascular disease drug discovery and development. TARA's state-of-the-art in vitro human cardiac disease models combined with Valo's artificial intelligence-driven Opal platform—which is built on high-fidelity patient data—creates a vertically integrated platform and a world-class cardiovascular disease franchise. Press release.

Imeka, a leading neuroimaging company combining diffusion imaging and AI to map white matter integrity, announced a collaboration with GE Healthcare to expand the capabilities of magnetic resonance imaging (MRI) and advance precision medicine for brain health. GE Healthcare will integrate Imeka’s non-invasive neuroimaging technology into the BrainWave advanced diffusion processing package to allow researchers and clinicians to analyze diffusion MRI signals in the brain in greater detail. GE Healthcare partners with Medical Numerics, Inc. to offer BrainWave, an easy-to-use analysis and visualization tool for functional brain image data. BrainWave enables processing, analysis, 3D rendering, and display of results from Blood Oxygen Level Dependent (BOLD) MRI and diffusion tractography scans. By leveraging Imeka’s advanced neuro imaging processing technology within BrainWave, researchers and clinicians will be able to quickly obtain highly localized views of white matter, which can yield valuable insights into the impact of central nervous system (CNS) diseases and disorders. Press release.

AiCure, an AI and advanced data analytics company focused on improving clinical trials, is expanding its global presence through partnerships, a new employee base, and key events. Through its contract research organization (CRO) partnership program, AiCure Partners for Excellence (AiPEX), AiCure is partnering with Qwince, an Italy-based technology and services company focused on helping organizations implement innovative solutions and advance healthcare. Leveraging Qwince's consulting experience in data science, pharmaceuticals, and technology, the partnership will aim to foster clinical and commercial opportunities for the deployment of AiCure's AI platform with pharmaceutical sponsors and government healthcare departments. It will also work with network pharmacy associations to leverage local pharmacies as an alternative to sites during clinical trials to improve convenience for patients. This partnership will empower Italian organizations to explore new endpoints and ways to assess patient behavior, as well as provide holistic, predictive insights for faster, more precise clinical trials and real-world observational studies. Press release.