Find here a listing of the latest industry news in genomics, genetics, precision medicine, and beyond. We will update and add to this page on a regular basis. This page is not a compilation of all relevant information but rather contains some key highlights that we consider to be of importance to share with the community.

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News for the month of August 2023

Highlights for the month of August included the publication of the full sequence of the Y chromosome published in two different papers. The Y chromosome, once considered an unimportant “graveyard” for genes destined to disappear and very small in size, was hard to sequence mostly because of its repetitive regions. Researchers (National Human Genome Research Institute, and the Telomere-to-Telomere consortium) have now analyzed and detailed the complex arrangement of 62 million bases from the Y chromosome, while a second research group (Jackson Laboratory for Genomic Medicine) created and analyzed an assembly of 43 human Y chromosomes which revealed extensive complexity and variation. Furthermore, the NIH unveiled a comprehensive dataset to help cancer researchers uncover new molecular insights into how cancers develop and progress that standardizes genomic, proteomic, imaging, and clinical data from individual studies of more than 1,000 tumors across 10 cancer types. The pan-cancer proteogenomic dataset is described in detail in the Proteogenomic data and resources for pan-cancer analysis.

Other news for the month included Illumina being investigated by the SEC in relation to the $7.1B Grail acquisition, this about a month after the European Commission fined the company approximately $478.9 million (€432 million) for completing the merger in August 2021 before the Commission had weighed in on whether the deal was anti-competitive.

Funding / IPO

• QuantHealth Announces $15M Series A for its AI Platform That Enhances Success of Clinical Trials
• Liquidation: Digital Health Company Babylon Files For Bankruptcy In U.S., Will Liquidate
• Viome Life Sciences, Closes $86.5M Oversubscribed Series C Funding Round
• Alzheimer’s Drug Discovery Foundation Joins Astrocyte Pharmaceuticals’ $6M Pre-Series B Financing Round to Expand Development of Cerebroprotectant AST-004
• Unlocking the potential of whole population health data through research driver programmes With renewed funding of £72.3 million for the next five years, HDR UK has an ambitious new strategy that will focus on empowering researchers, promoting partnerships and accelerating trustworthy data use. As an integral part of the strategy, five research driver programmes will test and improve trustworthy health data infrastructure for the wider benefit of the research community.
• Lightcast Discovery Nabs $49M in Series B Funding to Commercialize Single-Cell Analysis Tech
• Biocanic Closes $600,000 Seed Round to Accelerate Growth of Its Health Intelligence Platform
• Chinese Company Neurophth Secures Nearly 95 Million USD in Series C+ Financing for Gene Therapy Clinical Trials

Mergers & Acquisitions

• PacBio Enters into Agreement to Acquire Apton Biosystems to Accelerate the Development of a Next Generation, High Throughput, Short-read Sequencer PacBio will Combine Apton’s Proprietary Sequencing Technology With its Highly Accurate Sequencing by Binding Chemistry to Develop a High-Throughput Sequencer Designed to Deliver Billions of Reads per Flow Cell

Precision Medicine

• Natera’s Prospera™ Lung Transplant Assessment Test Granted Medicare Coverage
• Whitman-Walker Institute, Cancer Support Community and GRAIL Collaborate On Research Aimed at Advancing Health Equity in Cancer Screening and Care Through Multi-Cancer Early Detection
• Science experiments traditionally only used male mice – here’s why that’s a problem for women’s health

(Omics) Data Platform / Sequencing / Analysis / Instruments

• Watchmaker Genomics Announces Co-Exclusive License to Disruptive DNA Methylation Technology and Strategic Supply Agreements with Exact Sciences
• Complete Genomics Garners the Prestigious 2023 R&D 100 Awards for Cutting-Edge Innovation Complete Genomics was awarded in the Analytical/Test category and was bestowed in recognition of ultra-high throughput gene sequencer DNBSEQ-T20×2*(“T20”)
• PacBio Begins Commercialization of the Onso Short-Read Sequencing System

Multi-Omics

• DNAnexus and BigOmics Analytics Join Forces to Improve Proteomics and Transcriptomics Data Visualization and Interpretation As part of the agreement, BigOmics’ collaborative analysis environment, Omics Playground, is now available on the DNAnexus precision health data platform, providing customers with a fully integrated solution to better understand large-scale proteomics and transcriptomics data.

Artificial Intelligence / Machine Learning / ChatGPT

• Epic, Microsoft expand partnership to accelerate generative AI in healthcare
• AWS launches interactive healthcare cloud training
• Scientists employ AI to predict brain cancer outcomes
• Current large language models will not fix health care. Here’s what could
• A computational genetic model will make it possible to predict increased genetic risk for breast cancer
• 120 Mind Blowing AI Tools
• PatientGPT replaces 6 months of drug research in seconds
• Multimodal medical AI A Google blog post, outlining a spectrum of approaches to bringing multimodal capabilities to LLMs and share some exciting results on the tractability of building multimodal medical LLMs, as described in three recent research papers.
• Preparing Physicians for the Clinical Algorithm Era The U.S. government took steps to ensure that clinical decision support algorithms are safe for clinical use. The next and larger step will be teaching physicians how to use the algorithms effectively. The NEJM article recommends physician education in utilization of clinical decision support algorithms, emphasizing the need for probabilistic reasoning skills.
• Algorithmic blood test analysis will ease diagnosis of cancer types, guide treatment

Miscellaneous

• Average cost of healthcare data breach reaches $11M, report finds
• Europe spent €600 million to recreate the human brain in a computer. How did it go?
• Genome Medical Recognized as One of America’s Fastest-growing Companies on the 2023 Inc. 5000 List
• Stevenage: Plans approved for £900m Life Science campuses
• The campus will provide 1.6 million sq ft of lab and office space, as well as creating 5,000 new jobs. It will sit alongside GSK’s existing Global R&D facility and Stevenage Bioscience Catalyst, and incorporate the UK’s Cell and Gene Therapy Catapult.
• Illumina expands genomics capabilities in India with opening of Solutions Center
• NIH unveils comprehensive proteogenomic dataset to help cancer researchers unravel molecular mysteries The National Institutes of Health is releasing a comprehensive dataset that standardizes genomic, proteomic, imaging, and clinical data from individual studies of more than 1,000 tumors across 10 cancer types. Researchers from around the world will be able to use this publicly available resource to uncover new molecular insights into how cancers develop and progress. The dataset was generated by the Clinical Proteomic Tumor Analysis Consortium (CPTAC) at the National Cancer Institute, part of the National Institutes of Health.
• Illumina says SEC is investigating Grail acquisition The U.S. Securities and Exchange Commission is investigating the $7.1 billion acquisition of Grail. The news comes about a month after the European Commission fined the company approximately $478.9 million (€432 million) for completing the merger in August 2021 before the Commission had weighed in on whether the deal was anti-competitive.
• Q/A: AiCure SVP Sondra Pepe Talks How Digital Health Can Improve Access to Clinical Trials
• How primary care is poised to support reproductive health and abortion in the post-Roe era
• Verily Appoints Andrew Trister, MD, PhD as Chief Scientific Officer
• Verily and OneOncology Announce Collaboration to Advance Cancer Research

Publications

• Economic and health impact modelling of a whole genome sequencing-led intervention strategy for bacterial healthcare-associated infections for England and for the USA
• Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer Genetic breast cancer study alters guidelines in Sweden. New testing guidelines recommends that additional 11 genes associated with elevated risk for breast cancer should be included in testing, instead of just testing for BRCA1 and BRCA2.
• Activation of thousands of genes in the lungs and kidneys by sepsis is countered by the selective nuclear blockade
• A Pooled Cell Painting CRISPR Screening Platform Enables de novo Inference of Gene Function by Self-supervised Deep Learning
• Assembly of 43 human Y chromosomes reveals extensive complexity and variation
• The complete sequence of a human Y chromosome
• Scientists reveal how proteins drive growth of multiple cancer types – Scientists have completed a deep analysis of the proteins driving cancer across multiple tumor types, information that can’t be assessed by genome sequencing alone. Understanding how proteins operate in cancer cells raises the prospect of new therapies that block key proteins that drive cancer growth, or therapies that trigger immune responses to abnormal proteins created by cancer cells.
  • Integrative multi-omic cancer profiling reveals DNA methylation patterns associated with therapeutic vulnerability and cell-of-origin
  • Pan-cancer analysis of post-translational modifications reveals shared patterns of protein regulation
  • Pan-cancer proteogenomics connects oncogenic drivers to functional states
• Proteogenomic data and resources for pan-cancer analysis
• Patterns in Cancer Incidence Among People Younger Than 50 Years in the US, 2010 to 2019 This nationwide cohort study found that the incidence of early-onset cancers continued to increase in the US from 2010 to 2019. While breast cancer had the highest number of incident cases, gastrointestinal cancers had the fastest-growing incidence rates among all early-onset cancers. These data may have implications for the development of surveillance strategies and funding priorities.
• Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel Researchers at Tel Aviv University have developed a computational model that makes it possible to predict each woman’s genetic risk of developing breast cancer based on her genetic profile. The research was based on a large-scale international study that included genomic data of about a quarter of a million women with and without breast cancer, and applied its findings to about 2,000 Israeli women.
• Scientists reveal two paths to autism in the developing brain
• Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis Using human “mini-brain” models known as organoids, Mayo Clinic and Yale University scientists have discovered that the roots of autism spectrum disorder may be associated with an imbalance of specific neurons that play a critical role in how the brain communicates and functions.
• DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes
• DNA methylation networks underlying mammalian traits Study evaluated methylation levels in highly conserved DNA sequences, profiling ~15,000 samples across 348 mammalian species. Phylogenetic trees suggest that the divergence of DNA methylation profiles closely mirrors genetic evolution. Species with longer maximum life spans have developed tidier methylation patterns within the genome, characterized by unique peaks and troughs of methylation. Methylation patterns associated with maximum life spans generally differ from those connected to age or interventions that affect mortality risk in mice. 
• Universal DNA methylation age across mammalian tissues  study talks about the development of universal pan-mammalian clocks, using 11,754 methylation arrays from the Mammalian Methylation Consortium, which encompass 59 tissue types across 185 mammalian species.
• Prediction of mechanistic subtypes of Parkinson’s using patient-derived stem cell models Study shows that shown that machine learning can accurately predict subtypes of Parkinson’s disease using images of patient-derived stem cell
• Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis ‘Mini-brain’ study reveals the roots of autism spectrum disorder may be associated with an imbalance of specific neurons that play a critical role in how the brain communicates and functions. The specific cells are known as excitatory cortical neurons.
• Towards a post-pandemic future for global pathogen genome sequencing The availability, speed and effectiveness of genomic sequencing increased dramatically during the pandemic, as scientists worldwide rushed to find ways to track and predict the virus’s movement and evolution. It also was critical in the development of effective vaccines. Biologists argue that building on this momentum is critical in society’s response to future pandemics, but it requires significant collaboration and investment now, before the next pathogen is threatening society.

News for the month of July 2023

Also in July, Illumina was carrying some of the major headlines in the sector, albeit not in a positive way: Illumina was hit with a record $476M EU antitrust fine over the Grail deal which followed shortly after the layoff news announced at the end of last month as part of an effort to cut more than$100M in expenses this year.

Other news for the month of July included Myriad Genetics announcing a new $90M asset-based credit facility, Causaly raising $60M in Series B to catalyze their AI-powered preclinical discovery platform, genome sequencing being shown to be highly effective at diagnosing genetic disorders in newborns and infants, Amazon launching a generative AI-based clinical documentation service, and the finding that a common variant in an immune-system gene may be linked with a much higher chance of dodging symptoms after SARS-CoV-2 infection.

Funding / IPO

• Crescendo Biologics secures $32M and announces expansion of CB307 Phase 1b trial in PSMA+ solid tumours
• Penn State researchers examine how environmental chemicals affect gut microbiome – receive $7M award to support research on mechanisms that exacerbate inflammatory disease
• Sanguina Raises $2.8M in Series A Funding to Drive Innovation in Home-Based Testing and Wellness Management
• SURGE Therapeutics Raises $32M Series B Financing to Advance Intraoperative Immunotherapy to Improve Cancer Patient Survival Outcomes Post-Surgery
• Intel Capital and Khosla Ventures Lead $27M Investment in SiPhox^® Health to Transform Health Testing
• Alzheimer Society of Canada invests nearly $6 million to support innovative dementia research
• Harmony Biosciences Announces Funding for Unique Community Initiatives Through its Patients and Progress at the Heart Awards Programs
• Causaly Raises $60M in Series B Funding to Catalyze AI-powered Preclinical Discovery The investment brings the total funding raised to $93M, which will be utilized to extend Causaly’s product and expand commercial relationships, to enable breakthrough therapeutic innovations.
• Myriad Genetics Announces New $90 Million Asset-Based Credit Facility
• Herself Health, The First Healthcare Company Built for Women 65+, Raises $26 Million Series A To Accelerate Growth and Keep up with Demand from Patients
• Readout AI Secures Pre-Seed Funding to Decrease the Time from Clinical Trial Data to Clinical Trial Insight
• Cellbox Solutions GmbH Awarded €2.5 Million Grant Combined with an Equity Component of up to €10 Million Under the European Innovation Council´s Accelerator Program
• Flywheel Raises $54M in Series D Funding

Precision Medicine

• Gene therapy eyedrops restored a boy’s eyesight, could help millions
• Children’s Hospital Colorado Launches State’s First Pediatric Precision Medicine Institute
• Illumina and Pillar Biosciences partner to improve access to personalized cancer treatment options
• FDA Clears Numares Health Cardiovascular Diagnostic Test and Core Technology Platform
• Genome sequencing highly effective at diagnosing genetic disorders in newborns and infants
• The Alliance for Genomic Discovery announces founding biopharma members: AbbVie, Amgen, AstraZeneca, Bayer, and Merck Alliance aims to accelerate therapeutic development and expand the diversity of genomic data through inclusion of more samples from currently underrepresented ancestries.  The multiyear agreement aims to accelerate development of therapeutics through large-scale genomics and the establishment of a preeminent clinical genomic resource. Member organizations AbbVie, Amgen, AstraZeneca, Bayer, and Merck will co-fund the whole-genome sequencing (WGS) of 250,000 samples and have access to the resulting data for use in drug discovery and therapeutic development. 
• The Caris Precision Oncology Alliance Welcomes the Icahn School of Medicine at Mount Sinai

(Omics) Data Platform / Sequencing / Analysis / Instruments

• Fore Genomics Adopts DNAnexus Platform to Access and Analyze Whole-Genome Newborn Screening Data
• Genomenon Receives Frost and Sullivan Global Pharma and Clinical Diagnostics Leadership Award

Genomic/Genetic Testing / CDx / Liquid Biopsy

• DELFI Diagnostics Licenses GEMINI Technology from Johns Hopkins University: Study Demonstrates High Performance for Early Stage Lung Cancer Detection When Integrated with DELFI Diagnostics’s Platform
• Novel machine-learning blood test detects cancers with genome-wide mutations in single molecules of cell-free DNA
• Vital Biosciences Introduces Revolutionary Point-of-Care Lab Testing Platform to Transform Patient Care
• MGI Launches “What If Campaign” Under “What If?”, MGI sets out to redirect the industry dialogue from competition and comparison of platform specifications to customer-centered solutions by prompting scientists, researchers and decision-makers to tap into the possibilities of their most pressing genomics needs and desires being met.
• Guardant Health announces reimbursement approval of Guardant360^® CDx liquid biopsy test in Japan
• Tempus Announces Companion Diagnostic Collaboration with TScan Therapeutics The focus will be on the development of T cell receptor (TCR)-engineered T cell therapies (TCR-T) for the treatment of cancer patients
• Comprehensive tissue deconvolution of cell-free DNA by deep learning for disease diagnosis and monitoring Newly developed tool that could improve liquid biopsy – the study identified specific methylation patterns unique to each tissue, potentially helping to Identify the specific tissue or organ associated with cfDNA alterations picked up by testing, a critical challenge for accurate diagnosis and monitoring of diseases

Genome Editing / CRISPR / Cas9

• Fanzor is a eukaryotic programmable RNA-guided endonuclease RNA-guided system in animals shows promise for human genome editing
• Benjamin Oakes’ Scribe Therapeutics is developing specialized Crispr proteins to tackle a wide range of diseases–and it’s garnered deals with Big Pharma potentially worth over $4 billion
• Development of super-specific epigenome editing by targeted allele-specific DNA methylation Demonstrates targeted epigenome editing in the promoter region of several genes using sgRNA/dCas9 complexes
• Multiplex CRISPR editing of wood for sustainable fiber production
• Caribou Biosciences Reports Positive Clinical Data from Dose Escalation of CB-010 ANTLER Phase 1 Trial in r/r B-NHL
• Crispr/Gene Editing Technology Creates New Treatment Possibilities for Alzheimer’s Disease Two new CRISPR-based strategies offer hope for next-generation Alzheimer’s treatments: One seeks to dampen the impact of the most common Alzheimer’s risk gene; the other aims to decrease production of a toxic protein in the brain.

Spatial Omics

• Vizgen Installs 100th MERSCOPE^® Instrument

Artificial Intelligence / Machine Learning / Large Language Models

• Amazon launches generative AI-based clinical documentation service
• Unlocking the Future of Life Sciences Research with AI, LLMs and Knowledge Graphs A post written by the Causaly team members and their thoughts on how AI, LLM, and Knowledge Graphs converge in Life Sciences and the capabilities needed to translate this into tangible benefits for research organizations.
• Big pharma is warming to the potential of AI An Economist article
• Putting ChatGPT’s Medical Advice to the (Turing) Test: Survey Study They concluded that ChatGPT responses to patient questions were weakly distinguishable from provider responses. Laypeople appear to trust the use of chatbots to answer lower-risk health questions. It is important to continue studying patient-chatbot interaction as chatbots move from administrative to more clinical roles in health care.

Miscellaneous

• Colossal Biosciences Launches Partnership with Elephant Havens Wildlife Foundation to Develop New Models for the Successful Reintroduction of Orphan Elephants Using AI
• Masked reference genomes A Broad Institute blog post demonstrating the impact of reference genomes on downstream germline variant calling
• FDA approves Alzheimer’s drug Leqembi, paving way for broader Medicare coverage
• A new study of sick infants sees potential in DNA sequencing, but also a need for better ways to interpret the genome There is growing evidence that DNA sequencing can help diagnose the health care system’s youngest patients — babies in their first year of life. But a new report resurfaces a thorny challenge in researchers’ quest to turn long strings of A’s, T’s, G’s, and C’s into information doctors and patients can use: Reading the genome is one challenge, interpreting it is another.
• Illumina hit with record $476 million EU antitrust fine over Grail deal
• Digital health for aging populations
• An Ancient Battle Is Playing Out in the DNA of Every Embryo
• SMH Breaks Ground on $75 Million Research Facility
• Thermo Fisher Scientific Introduces New Reproductive Health Assays to Accelerate Fertility Research
• Do you take part in genetic studies? That might be in your genes A Nature article suggesting findings could help researchers better understand ‘participation bias’ in studies that link genomics with health, behaviour and other traits.
• Aging is complicated – a biologist explains why no two people or cells age the same way, and what this means for anti-aging interventions

Covid-19 / SARS-CoV-2

• Had COVID but no symptoms? You might have this genetic mutation A common variant in an immune-system gene is linked with a much higher chance of dodging symptoms after SARS-CoV-2 infection
• Ginkgo Bioworks and the Ministry of Health of the Republic of Botswana Announce Pathogen Monitoring Program at Key Ports of Entry
• Asep Inc.’s A.I.-Based Sepsis Technology Identifies COVID-19 Severity from a Blood Sample Severe COVID-19 is suggested to be a form of sepsis based on analysis of blood gene expression signatures

Publications

• Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer Novel blood testing technology developed by researchers at the Johns Hopkins Kimmel Cancer Center combines genome-wide sequencing of single molecules of DNA shed from tumors and machine learning may allow earlier detection of lung and other cancers.
• The genetic architecture and evolution of the human skeletal form Study identifies specific genetic variants that affect the skeletal form and ties a major evolutionary facet of human anatomical change to pathogenesis
• Organization of the human intestine at single-cell resolution
• Genetically instrumented LDL-cholesterol lowering and multiple disease outcomes: A Mendelian randomization phenome-wide association study in the UK Biobank The researchers applied deep learning to analyze more than 30,000 full-body X-rays from the UK Biobank. 
• Associations of Sex, Race, and Apolipoprotein E Alleles With Multiple Domains of Cognition Among Older Adults
• Antibiotics in the clinical pipeline as of December 2022 The clinical pipeline of antibiotics shows 62 new antibiotics in development with 34 of those based on structures not previously used as an antibiotic.
• CSF proteome profiling reveals highly specific biomarkers for dementia with Lewy bodies
• A framework for identifying targets for individualized therapy in genetic disease
• Burden of serious harms from diagnostic error in the USA
• Donanemab in Early Symptomatic Alzheimer Disease The TRAILBLAZER-ALZ 2 Randomized Clinical Trial
• Brain structure and phenotypic profile of superagers compared with age-matched older adults: a longitudinal analysis from the Vallecas Project Study suggests razor-sharp memory function in older adults linked to faster movement and better mental health
• Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region The genetic data and electronic medical records from 35,968 patients was leveraged as part of the UCLA ATLAS Community Health Initiative. 376 clusters were identified, including clusters with patients of Afro-Caribbean, Puerto Rican, Lebanese Christian, Iranian Jewish and Gujarati ancestry. The analysis uncovered 1,218 significant associations between disease diagnoses and clusters and 124 significant associations with specialty visits.
• Spending on Phased Clinical Development of Approved Drugs by the US National Institutes of Health Compared With Industry Study assesses NIH contribution to clinical development of new drugs
• Single-cell spatial transcriptome reveals cell-type organization in the macaque cortex
• Machine learning for cryosection pathology predicts the 2021 WHO classification of glioma Scientists have developed an artificial intelligence (AI) tool capable of deciphering a brain tumor’s genetic code in real time, during surgery.
• Studying the genetics of participation using footprints left on the ascertained genotypes
• A confinable female-lethal population suppression system in the malaria vector, Anopheles gambiae New CRISPR-based system could eliminate malaria-carrying mosquitoes
• Oncogene-like addiction to aneuploidy in human cancers Cancer cells with extra chromosomes depend on those chromosomes for tumor growth and eliminating them prevents the cells from forming tumors. The study suggest that selectively targeting extra chromosomes may offer a new route for treating cancer
• Genome-wide mapping of cancer dependency genes and genetic modifiers of chemotherapy in high-risk hepatoblastoma Pediatric hepatoblastoma model hints at DNA damage repair pathway for novel therapeutics
• A biological camera that captures and stores images directly into DNA The study describes a new technique of capturing two-dimensional (2D) light patterns into deoxyribonucleic acid (DNA) and using high-throughput next-generation sequencing to retrieve recorded images
• Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder
• Fecal microbiota transplantation plus anti-PD-1 immunotherapy in advanced melanoma: a phase I trial Fecal transplants show promise in improving melanoma treatment
• Targeted Destruction of S100A4 Inhibits Metastasis of Triple Negative Breast Cancer Cells New compound shows promise in stopping breast cancer metastasis
• Prediction of on-target and off-target activity of CRISPR–Cas13d guide RNAs using deep learning The study combines a deep learning model with CRISPR screens to control the expression of human genes in different ways – such as flicking a light switch to shut them off completely or by using a dimmer knob to partially turn down their activity. These precise gene controls could be used to develop new CRISPR-based therapies.

News for the month of June 2023

The biggest June news clearly centered around the resignation of Francis deSouza as CEO of Illumina after a proxy battle with Icahn. Him stepping down, marked a victory for the activist investor Carl Icahn and heightened expectations that this could lead to unwinding Illumina’s controversial $7.1 billion acquisition of Grail. Illumina has since begun a search for a new CEO and named Charles Dadswell, senior vice president and general counsel, as interim chief executive. DeSouza will stay on in an advisory capacity through July 31.

Other news for the month of June included Colossal Biosciences, the world’s first de-extinction company, being named to the third-annual TIME100 Most Influential Companies list, which recognizes 100 companies making an extra ordinary impact around the world; Illumina Ventures launching Illumina Ventures Labs building on the foundation of the Illumina Accelerator Program; the ACMG updating its guidance for reporting secondary findings in the context of clinical exome and genome sequencing (v3.2); and the invention of a new way to map specific DNA markings called 5-methylcytosine(5mC) which regulate gene expression and key role in health and disease. In addition, this technique allows for scientists to profile DNA using very small samples and this without compromising the sample which means it can potentially be used in liquid biopsy applications.

Funding / IPO

• BeeKeeperAI Raises $12.1 Million Series A to Accelerate AI Development on Privacy Protected Healthcare Data
• Prenetics and Globally Renowned Scientist Prof. Dennis Lo Establish US$200m Joint Venture “Insighta” for Breakthrough Multi-Cancer Early Detection Screening
• Altis Labs Raises US $6 Million in Seed Funding Co-Led by Debiopharm and Benchstrength to Advance AI Platform for Clinical Trials
• Breast Cancer Canada, AstraZeneca Canada and Illumina Join Forces To Launch Breast Cancer Screening and Detection Grants
• Global funding for cancer research between 2016 and 2020: a content analysis of public and philanthropic investments
• Delve Bio Launches to Commercialize its Metagenomic Sequencing Platform for Infectious Disease Diagnosis – Raises $35M in Series A

Mergers & Acquisitions

• Genomenon Acquires Boston Genetics to Accelerate Curation of Human Genome
• Lunaphore to Get Acquired by Bio-Techne
• Eli Lilly Bets $2.4B on Dice Therapeutics’ Oral Drugs for Psoriasis and More
• Novartis buys Chinook for $3.5 billion in race to treat rare kidney disease

Precision Medicine

• GeneDx Commends the States of Arizona and Florida for Adding Rapid Whole Genome Sequencing (rWGS) as a Covered Benefit for Medicaid Pediatric Patients

(Omics) Data Platform / Sequencing / Analysis / Instruments

• GeneDx Announces New Tool to Help Harness Human Pangenome Diversity for Clinical Interpretation of Variants
• DNAnexus Platform Enables Researchers to Access and Analyze Biomedical Data for Largest Health Research Program in Mexico

Genomic/Genetic Testing / CDx / Liquid Biopsy

• Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) In the four-year Mayo Clinic study, researchers evaluated 1,152 patients with rare diseases, did genomic testing on 855 patients, and also evaluated the tested patients’ family members. The overall rate where they either determined or likely determined the cause of the disease was 17.5% and as high as 66.7%, depending on the phenotype (set of observable characteristics of a person resulting from the interaction of its genotype with the environment).
• FDA approves FoundationOne Liquid CDx as companion diagnostic for Braftovi The combination therapy received approval for previously treated metastatic colorectal cancer (mCRC) patients with a BRAF V600E alteration. FoundationOne Liquid CDx becomes the first comprehensive genomic profiling test to be approved by the FDA to detect patients with BRAF V600E mutations in mCRC who may benefit from treatment with the combination therapy.
• Dotmatics Acquires SoftGenetics Expanding Into Clinical and Forensic Genetic Analysis
• Labcorp Plasma Focus™ Liquid Biopsy Test Now Available
• BostonGene Announces the Launch of its CLIA-certified and CAP-accredited Liquid Biopsy, Immunoprofiling and Spatial Proteomics Solutions

RWE / RWD

• Caris Life Sciences and ConcertAI Expand Partnership to Create First-in-Class, Prospectively Matched Clinico-Genomic Research Platform

Spatial Omics

• Owkin Powers a New Era in Oncology Research with MOSAIC – An Unprecedented $50 Million Spatial Atlas of Cancer Cells

Genome Editing / CRISPR / Cas9

• How a CRISPR-Like System Was Discovered in Eukaryotes
• Researchers uncover new CRISPR-like system in animals that can edit the human genome

Artificial Intelligence / Machine Learning / Large Language Models

• Analysis of 145 generative AI startups IDs ‘monumental’ opportunities to remedy pain points in healthcare and life sciences
• Large Language Models (LLMs) in Molecular Biology Serafim Batzoglou describes in detail why LLMs are ideal for molecular biology
• The AI-powered future of healthcare is ‘right now’: What CEOs think of AI
• The latest generative AI efforts in healthcare: Carbon Health, Tempus launch tools for docs
• Precision Cancer Consortium Teams Up with Massive Bio to Utilize AI Analytics and Enhance Clinical Trial Matching for Cancer Patients Worldwide MOSAIC (Multi Omic Spatial Atlas In Cancer) is a landmark $50 million project to revolutionize cancer research through the use of spatial omics, a set of cutting-edge technologies that offer unprecedented information on the structure of tumors.
• Health system-scale language models are all-purpose prediction engines

Microbiome

• Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles

Miscellaneous

• Illumina begins layoffs in plan to cut more than $100M in expenses this year
• FACT SHEET: Biden-⁠Harris Administration Announces New Action Plan to Bolster, Expand, and Diversify America’s Biotechnology and Biomanufacturing Workforce
• Brace yourself for a wave of biotech layoffs
• Personalis Files Second Patent Infringement Suit Against Foresight Diagnostics
• Colossal Biosciences Named to TIME’s List of the TIME100 Most Influential Companies Colossal Biosciences (“Colossal”), the world’s first de-extinction company, has been named to the third-annual TIME100 Most Influential Companies list.
• The Department of Health – Abu Dhabi, Mass General Brigham, and International Center for Genetic Disease sign Declaration of Collaboration to Advance Life Sciences Research  The agreement signed is intended to advance life sciences across three strategic pillars including clinical and translational research, capacity building and technology transfer and commercialisation. Leveraging the Emirate’s advanced genomics capabilities, the agreement seeks to expand research into the domain of genomic medicine and prioritised global genetic diseases in areas such as rare diseases, oncology, neurology, as well as cardiovascular and metabolic diseases. The collaboration aims to enhance access to innovative solutions and treatments for patients in the United Arab Emirates (UAE) and beyond.
• Illumina Ventures to Launch Illumina® Ventures Labs
• Francis deSouza’s tenure at Illumina is a lesson in how not to handle CEO succession
• Illumina CEO deSouza resigns after proxy battle with Icahn CEO Francis deSouza stepped down on Sunday, marking a victory for activist investor Carl Icahn and heightening expectations that it could unwind its controversial $7.1 billion acquisition of Grail.
• The Caris Precision Oncology Alliance Welcomes SWOG Cancer Research Network
• Apple unveils watchOS 10 with new features for mental health, vision health
• Billions is spent on cancer research globally – but is it money well spent?
• Invivoscribe Partners with Complete Genomics to Develop and Commercialize Biomarker Tests for Oncology and Cancer Research

Publications

• Fanzor is a eukaryotic programmable RNA-guided endonuclease
• ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
• Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies Researchers took the genotypes of 219 patients with ALS and 223 healthy individuals without ALS, and they constructed the polygenic scores from a genome-wide association study of more than 80,000 people.
• Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency Researchers analyzed genetic data from more than 104,733 women in UK Biobank.
• Subclinical atherosclerosis and accelerated epigenetic age mediated by inflammation: a multi-omics study
• Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles
• Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) In the four-year Mayo Clinic study, researchers evaluated 1,152 patients with rare diseases, did genomic testing on 855 patients, and also evaluated the tested patients’ family members. The overall rate where they either determined or likely determined the cause of the disease was 17.5% and as high as 66.7%, depending on the phenotype (set of observable characteristics of a person resulting from the interaction of its genotype with the environment).
• Gut microbiome composition may be an indicator of preclinical Alzheimer’s disease
• Multiplex-GAM: genome-wide identification of chromatin contacts yields insights overlooked by Hi-C Using this technique, the team created a map of the three-dimensional interactions. Compared with existing 3D maps of the genome created using Hi-C, they found many novel, more complex interactions.
• Single-cell CRISPR screen for GWAS loci
• Folding Double-Stranded DNA into Designed Shapes with Triplex-Forming Oligonucleotides
• In vivo bone marrow microenvironment siRNA delivery using lipid–polymer nanoparticles for multiple myeloma therapy
• Direct enzymatic sequencing of 5-methylcytosine at single-base resolution New, precise, and efficient DNA sequencing method may lead to easier testing and earlier cancer detection
• Systematic characterization of regulatory variants of blood pressure genes The study, which reviewed more than 4,600 genetic variants represents one of the largest endeavors to date investigating and assigning function to the non-coding genome.
• Identification of BRCA1/2 mutation female carriers using circulating microRNA profiles Researchers from Dana-Farber Cancer Institute, Brigham and Women’s Hospital, and Medical University of Lodz have found a way to detect increased cancer risk associated with BRCA1 and BRCA2 mutations without genetic sequencing. The assessment isn’t based on the presence of BRCA1/2 gene mutations. Rather, it’s based on functional changes that occur when the pathway those and other genes regulate is not working properly.
• Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
• Researchers link death in gene-editing study to a virus used to deliver the treatment, not CRISPR
• 150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility A genome-wide association study of more than 700,000 people showed DivD is highly heritable with 150 genetic factors linked to the risk of getting the disease.

News for the month of May 2023

Since ChatGPT broke into the world in November of last year it has captured everybody’s attention with both OpenAI’s ChatGPT and Microsoft’s Azure OpenAI services being now available to the public. During the month of May it got very prevalent in the healthcare scene that teach leaders are being eager to adopt the technology sooner than later. As such, we see many companies now integrating ChatGPT into their offerings, and for example, Epic going all in on generative AI and is working with Microsoft to integrate large language model tools and AI into its electronic health record software. While the FDA commissioner Robert Califf sees that large language models (LLMs), such as ChatGPT, will result in important applications that will improve healthcare, Califf suggested that the regulation of ChatGPT-like models is critical to avoid being‘swept up quickly’ by tech and with that OpenAI CEO, Sam Altman, faced questions about Artificial Intelligence at a hearing in the U.S. Senate.  

Additional news for the month of May included Genome Insight announcing the U.S. launch of CancerVision, their whole genome sequencing (WGS) test, in conjunction with the opening of their corporate headquarter located in San Diego, CA; DNAnexus announcing that its core platform and Cohort Browser are now optimized for accessing and analyzing large-scale proteomics data, and PerkinElmer is rebranding its diagnostics, life sciences business as Revvity.

Funding / IPO

• Aegis, Northwell launch Optain with $12M in seed funding for AI-powered disease detection
• BenchSci Raises $95 Million Series D Funding to Enable Drug Discovery Innovation at Scale With its Groundbreaking AI Platform ASCEND
• Prognos Health Raises $23M in Equity Funding
• ReNAgade Therapeutics Launches with over $300 Million in Series A Financing To Unlock the Limitless Potential of RNA Medicine
• BiomeSense Closes Oversubscribed $3 Million Funding Round
• MultiOmic Health Closes $6.2 Million Funding Round to Discover Precision Medicines for Metabolic Syndrome-Related Conditions

Mergers & Acquisitions

• healthŌme™ Acquires Kailos Genetics, Strengthening a Pioneering Precision Health Management Company at the Forefront of Genomics and Healthcare Innovation
• UnitedHealth, LHC Group close $5.4B merger deal

Precision Medicine

• Genome Insight Launches in the U.S. with Innovative Whole Genome Sequencing Approach that Offers Unprecedented, Actionable Insights in Cancer Care – read also the GEN article: Whole Genome Sequencing for Cancer Arrives in the U.S. with Genome Insight
• FoundationOne^®Liquid CDx Receives FDA-Approval as a Companion Diagnostic for EXKIVITY^® (mobocertinib) to Identify Patients with EGFR Exon 20 Insertion Mutations in Advanced Non-Small Cell Lung Cancer

(Omics) Data Platform / Sequencing / Analysis / Instruments

• DNAnexus Platform Streamlines Access and Analysis for Large-Scale Proteomics Data
• Genialis Unveils Expressions Version 3.0, Cloud Software for Faster, More Secure Data Processing and Management

Genomic/Genetic Testing / CDx / Liquid Biopsy

• GeneDx Adds Buccal Swab as Non-Invasive Whole Genome Sequencing Sample Collection Option
• Tempus Receives U.S. FDA Approval for xT CDx, a NGS-Based In Vitro Diagnostic Device

Genome Editing / CRISPR / Cas9

• Has the CRISPR revolution arrived yet? An interview with Greg Licholai, a biotech entrepreneur and a lecturer at Yale SOM, about the state of the technology.

Artificial Intelligence / Machine Learning

• Epic is going all in on generative AI in healthcare. Here’s why a handful of health systems is eager to test-drive it
• 16 Healthcare Companies That Already Integrated ChatGPT: Infographic
• FDA calls for ‘nimble’ regulation of ChatGPT-like models to avoid being ‘swept up quickly’ by tech
• New App From January.ai is an AI-Powered Health Coach, Uses Generative AI to Predict Blood Sugar Response to 32MM+ Foods

Miscellaneous

• To become an Amazon Clinic patient, first you sign away some privacy The ‘HIPAA authorization’ for Amazon’s new low-cost clinic offers the tech giant more control over your health data
• Amazon’s One Medical partners with Rightway to expand primary care access
• Omicsedge forms strategic partnership with almaden genomics to streamline drug discovery
• Colossal Biosciences and the Vertebrate Genomes Project Publish the First Near Complete African Elephant Chromosome Level Genome
• Corporate Giants Buy Up Primary Care Practices at Rapid Pace Large health insurers and other companies are especially keen on doctors’ groups that care for patients in private Medicare plans.
• Post-spinoff, PerkinElmer rebrands diagnostics, life sciences business as Revvity
• The Scientist Turned Biotech Empresario Who Changed How We Look At Gene Editing A Forbes article about Harvard University Professor David Liu, Ph.D. His newest company, Nvelop Therapeutics, joins Liu’s impressive list of nine others, each of which has exemplified the vast applications of gene editing. From addressing drug targets previously thought inaccessible to engineering healthier food choices for combating the obesity crisis, Liu’s work is pushing the limits of what is possible in biotechnology.
• Thermo Fisher Scientific & Pfizer Partner to Expand Localized Access to Next-Generation Sequencing-Based Testing for Cancer Patients in International Markets
• 23andMe Releases New Report Revealing Likelihood of Developing Lupus
• Charles River Laboratories Launches Next Generation Sequencing Services for Bacterial Identification and Fungal ID

Microbiome

• Particular genomic and virulence traits associated with preterm infant-derived toxigenic Clostridium perfringens strains
• Microbiome Insights Launches Metatranscriptomic Sequencing Services
• Examining the secrets of the microbiome
• The Role of the Human Gut Microbiome in Alzheimer’s Disease Development

COVID-19 / SARS-CoV-2

• GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 Study describes the results of genomic research coupled with meta-analyses of other studies of patients with severe-to-critical COVID-19 – highlights genetic risk and potential treatments.
• Single-cycle SARS-CoV-2 vaccine elicits high protection and sterilizing immunity in hamsters Describes a new vaccine concept that could lead to a new generation of vaccines against SARS-CoV-2

Publications

• Transfer learning enables predictions in network biology
• Alzheimer’s disease drug development pipeline: 2023 A review article
• RNA alternative splicing impacts the risk for alcohol use disorder Study provides evidence that RNA alternative splicing impacts the susceptibility to AUD and adds new information on AUD-relevant genes and pathways
• Identifying subtypes of heart failure from three electronic health record sources with machine learning: an external, prognostic, and genetic validation study
• The genetics of autism spectrum disorder in an East African familial cohort
• Recommendations for Next-Generation Sequencing Germline Variant Confirmation A Joint Report (evidence-based recommendations for next-generation sequencing germline variant confirmation) of the Association for Molecular Pathology and National Society of Genetic Counselors Evidence-based recommendations for next-generation sequencing germline variant confirmation
• Centenarians have a diverse gut virome with the potential to modulate metabolism and promote healthy lifespan
• Functional variants identify sex-specific genes and pathways in Alzheimer’s Disease Machine-learning program reveals genes responsible for sex-specific differences in Alzheimer’s disease progression
• Hybrid allele-specific ChIP-seq analysis identifies variation in brassinosteroid-responsive transcription factor binding linked to traits in maize Demonstrates how newly developed method can help identify the special differences in genetic information
• Region Capture Micro-C reveals coalescence of enhancers and promoters into nested microcompartments Much of the human genome is made of regulatory regions that control which genes are expressed at a given time within a cell. Those regulatory elements can be located near a target gene or up to 2 million base pairs away from the target. To enable those interactions, the genome loops itself in a 3D structure that brings distant regions close together. Using a new technique, MIT researchers have shown that they can map these interactions with 100 times higher resolution than has previously been possible.
• A draft human pangenome reference Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available. The work was led by the international Human Pangenome Reference Consortium, a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.
• Profiling the human intestinal environment under physiological conditions The study describes additional spatiotemporal profiling of the gut metabolome using CapScan (an Envivo product), including differences in dietary and lipid compounds. The study findings demonstrate feasibility and utility of using CapScan to collect, characterize, and quantify the intestinal microbiota, metabolome, host proteins, and bile acids along the human intestine.
• The Clinicogenomic Landscape of Induction Failure in Childhood and Young Adult T-Cell Acute Lymphoblastic Leukemia The study combined U.K. trial data from 2003–2019 to see which childhood leukemia patients are at higher risk of not responding well to chemotherapy. They then used whole genome sequencing to look for genetic clues that could be used to predict this risk in future patients.
• γδ-Enriched CAR-T cell therapy for bone metastatic castrate-resistant prostate cancer Demonstrates that chimeric antigen receptor T-cell (CAR T) therapy is an effective antitumor approach in mouse models of bone metastatic prostate cancer
• An African-specific variant of TP53 reveals PADI4 as a regulator of p53-mediated tumor suppression
• Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens New approach addresses the challenge of directly connecting genetic variants to human traits, health
• CRISPR editing of CCR5 and HIV-1 facilitates viral elimination in antiretroviral drug-suppressed virus-infected humanized mice

News for the month of April 2023

Major news for the month of April included Kaiser Permanente announcing that they will acquire Geisinger Health to develop a new company that would operate nonprofit community health systems, the Broad Institute together with Fabric Genomics launching a $1K Sample-to-Report Clinical Whole-Genome Sequencing Service, and a team of Broad Institute, MIT, and Harvard researchers publishing an improved DNA sequencing method that results in 1000-fold higher accuracy to detect rare genetic mutations.

Additional major news centered around AI and ChatGPT systems with Amazon striking a partnership with 3M to advance conversational AI in medicine, Microsoft and Epic planning to bring AI into electronic health records, ChatGPT being potentially helpful for breast cancer screening advice with certain caveats, PathAI announcing PathExplore, an AI-powered Pathology Panel to unlock untapped insights from the Tumor Microenvironment, and OpenAI closing a $300 million funding round at $27billion-$29 billion valuation.

Funding / IPO

• OpenAI closes $300 million funding round at $27 billion-$29 billion valuation
• Pattern Bioscience Secures $28.7 Million in Series C Financing
• Foresight Diagnostics announces $58.75 Million Series B financing led by Foresite Capital to commercialize ultrasensitive liquid biopsy MRD testing platform
• Seres Therapeutics Announces $250 Million Debt Financing with Oaktree
• Identifai-Genetics Closes a Post-Seed Fundraising Round of USD 3.3M
• Sapphiros Awarded $11M from NIH RADx® Tech to Develop a Next-generation Molecular OTC Test
• Sensible Biotechnologies Raises $4.2M in a Pre-Seed Financing Round to Revolutionize mRNA Manufacturing
• Mercy BioAnalytics Raises $41 Million in Series A Financing to Advance Novel Mercy Halo Liquid Biopsy Platform for Early Cancer Detection
• 2023 Q1 digital health funding: Investing like it’s 2019 A Rock Health review of digital health funding

Genomic / Genetic Testing / CDx / Liquid Biopsy

• Agilent Announces NGS Assay for Comprehensive Genomic Profiling (CGP) for Advancing Precision Oncology This new bioinformatics solution combines artificial intelligence, machine learning, and functional testing to elevate precision cancer treatment

Precision Medicine

• Strata Oncology Announces Launch and Medicare Coverage for Strata Select, a First-of-its-kind Immunotherapy Test
• Caris Life Sciences and Flare Therapeutics Announce Strategic Preferred Portfolio Partnership to Advance Flare’s Precision Oncology Pipeline
• integrate.ai Announces Central Role with Software Platform for Genomics and Precision Health
• Certis Oncology Solutions Launches Predictive Analytics Platform
• Foundation Medicine and Bristol Myers Squibb Expand Partnership to Focus on Companion Diagnostic Development
• Broad Institute Launches $1K Sample-to-Report Clinical Whole-Genome Sequencing Service
• Providence and GRAIL Expand Partnership to Increase Access to Galleri^® Multi-Cancer Early Detection Screening

(Genomics) Data Platform / Sequencing / Analysis / Instruments

• Single duplex DNA sequencing with CODEC detects mutations with high sensitivity A team of researchers at the Broad Institute of MIT and Harvard has developed a new approach to next-generation sequencing that detects genetic mutations within single molecules of DNA. This new method improves accuracy of DNA sequencing 1,000-fold to detect rare genetic mutations
• Integrated DNA Technologies Launches New Archer™ FUSIONPlex™ Core Solid Tumor Panel for Cancer Research
• Phase Genomics Collaborates with Element Biosciences to Optimize Cytogenomics for Liquid and Solid Tumor Samples
• Biomodal Launches Solution To Simultaneously Sequence Genetics And Epigenetics In One Workflow Biomodal (formerly known as Cambridge Epigenetix) commercially launches its new duet multiomics solution, combines genetic and epigenetic information from a single low volume sample
• Illumina, Henry Ford Health Partner on Genomic Testing for Cardiovascular Patients
• Pillar Biosciences and KeyGene Enter into Licensing Agreement
• Illumina’s cloud-based informatics programs recognized for robust, international data privacy protections Illumina receives ISO/IEC 27701 certification for six of its cloud-based informatics programs, including BaseSpace Sequence Hub, Clarity LIMS, Correlation Engine, Illumina Connected Analytics, TruSight Software, and BaseSpace Variant Interpreter

Genome Editing, CRISPR / Cas9

• Editas Medicine Receives FDA Orphan Drug Designation for EDIT-301 for the Treatment of Sickle Cell Disease
• Precision BioSciences Receives U.S. and International Patent Allowances for Proprietary PCSK9 ARCUS Nuclease

Artificial Intelligence / Machine Learning

• Amazon strikes partnership with 3M to advance conversational AI in medicine
• Microsoft and Epic are bringing AI into electronic health records Microsoft and Epic say the use of AI in Epic’s electronic health records will boost productivity and improve patient care
• ChatGPT helpful for breast cancer screening advice with certain caveats, new study finds
• PathAI Announces PathExplore, an AI-powered Pathology Panel to Unlock Untapped Insights from the Tumor Microenvironment

Miscellaneous

• ONTOFORCE and ZS partner to offer an optimized end-to-end service for early drug research and development
• Vowst Becomes First FDA-Approved Fecal Microbiota Pill
• Dante Genomics receives grant for a whole genome sequencing project to measure utility of pharmacogenomics in a real, clinical setting
• M2GEN Rebrands to Aster Insights
• NIH’s Genome Chief Says Genomics Is Evolving and Docs Need More Education on It An interview with Eric Green, director of the NHGRI to discuss his career, the latest advances in genomics, and his hopes for the future of his chosen field.
• Sensible Biotechnologies Announces Partnership with Ginkgo Bioworks to Develop Novel mRNA Manufacturing Platform

Publications

• Artificial Intelligence in Pharmaceutical Sciences
• The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
• Efficient engineering of human and mouse primary cells using peptide-assisted genome editing New, improved gene editing method could power the next generation of cell and gene therapies
• A genomic timescale for placental mammal evolution Researchers use genomes of 241 species to redefine mammalian tree of life
• Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity
• Universal structures for adaptation in biochemical reaction networks Study uncovers a universal molecular-level explanation for biological homeostasis and adaptation
• Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing
• Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci
• Chromosomal fragile site breakage by EBV-encoded EBNA1 at clustered repeats Shows how the EBV virus exploits genomic weaknesses to cause cancer
• Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland Genomic analysis can lead to a diagnosis in a substantial proportion of children with rare, undiagnosed diseases, according to results from the Deciphering Developmental Disorders study. Of 13,449 kids included in the multicenter study conducted in the U.K. and Ireland, 41% received a diagnosis using exome sequencing and microarray analyses
• Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis Researchers at Vanderbilt University Medical Center have determined a new way to measure the growth rate of precancerous clones of blood stem cells that one day could help doctors lower their patients’ risk of blood cancer. The technique, called PACER, led to the identification of a gene that, when activated, drives clonal expansion.
• Combinatorial design of nanoparticles for pulmonary mRNA delivery and genome editing Researchers have designed a new type of nanoparticle that can be administered to the lungs, where it can deliver messenger RNA encoding useful proteins. With further development, these particles could offer an inhalable treatment for cystic fibrosis and other diseases of the lung,
• Analysis of the fecal metagenome in long-term survivors of pancreas cancer

News for the month of March 2023

March was overshadowed by the second biggest bank collapse in U.S. history – the Silicon Valley Bank was shut down by regulators. The company’s downward spiral accelerated when it surprised investors with news that it needed to raise $2.25 billion to shore up its balance sheet. The Silicon Valley Bank, a 40-year-old institution, had been one of the most prominent lenders in the world of technology startups. The U.S. Treasury, the Federal Reserve and the Federal Deposit Insurance Corp. said the government would back Silicon Valley Bank deposits beyond the federally insured ceiling of $250,000. The decision addressed concerns around the fate of uninsured funds held at the Santa Clara, California-based bank which had $209 billion in assets and more than $175 billion in deposits..

Additional news included CVS Health finally put the rumors to rest by announcing a definitive agreement to purchase Medicare-focused primary care provider Oak Street Health in an all-cash deal valued at $10.6 billion, Invitae announcing a partnership with Epic to streamline interactions with provider organizations in the Epic community, making test result information available in providers’ usual workflows so that it’s easier to use genetic insights to inform treatment decisions, Illumina launching new software to enable tertiary analysis for oncology applications, and soon rare disease and its first product enabling long-read and short-read sequencing on one instrument, and Front Line Genomics releasing their 5 edition of The Sequencing Buyer’s Guide “From sample preparation workflows and new platform releases to single-cell analysis options and data analysis tools”. Lastly, the genomic analyses of eight locks of hair attributed to Ludwig van Beethoven shed light on his chronic health problems and cause of death – Beethoven had a predisposition for liver disease and became infected with hepatitis B.

Funding / IPO

• Genialis Raises $13M to Build Clinical Biomarkers that Predict Patient Response
• Swiss Company Lunaphore Raises CHF 40M in the First Close of Series D Funding The company plans to use the funding to strengthen its growing portfolio offering in spatial biology as well as support commercial execution to address ever-growing demand from customers
• Artera Launches with $90 Million in Funding to Personalize Cancer Therapy With Multimodal AI
• Pragma Bio Secures $10M To Expand Its Proprietary Technology Platform To Discover Novel Medicines Pragma Bio plans to continue the development of proprietary methods in genomic sequencing, artificial intelligence and synthetic biology to discover biomarkers and novel therapeutics to treat immunologic disorders
• Perspectum, a precision health company which develops medical imaging tools to improve the diagnoses of metabolic diseases and cancer, has completed the second close of its $55 million Series C funding round
• Chroma Medicine Secures $135M in Series B Financing to Advance Breakthrough Epigenetic Editing Technology and Expand Pipeline of Durable Precision Genomic Medicines

Mergers & Acquisitions

• INTEGRA Biosciences acquired Miroculus to advance genomics discoveries
• CVS buys Oak Street Health for $10.6B; Amazon closes $3.9B One Medical deal; and more

Genomic/Genetic Testing/CDx/Liquid Biopsy

• Oxford Nanopore and 4bases Announce Collaboration to Combine Nanopore Sequencing Devices and 4bases Kits to Support Rapid, High-accuracy Analyses in Human and Cancer Genetics, with a First Target of Same-day BRCA1 and BRCA2 Analysis
• Invitae Announces Partnership with Epic to Streamline Genetic Testing
• Oxford Nanopore Technologies and Cyclomics begin developer testing on non-invasive method for accurate and fast detection of molecules associated with cancer

(Genomics) Data Platform / Sequencing / Analysis / Instruments

• TileDB Launches Cross-Language Access to Single-Cell Data
• World TB Day 2023: Illumina and GenoScreen Launch Next Generation Sequencing Innovation to Eliminate Tuberculosis in Africa
• Illumina launches new software to enable tertiary analysis for oncology applications, and soon rare disease Illumina releases Connected Insights, a new cloud-based software enabling tertiary analysis for clinical next-generation sequencing (NGS) data.
• PacBio and Corteva Agriscience Enable Plant and Microbial Long-Read Sequencing Workflow on Revio System
• PacBio Announces a New Informatics Analysis Method for Highly Homologous Genes
• SOPHiA GENETICS and Agilent Partner on Comprehensive Solution for Cancer Analysis
• New Single-Cell Genome, Transcriptome Sequencing Technique Delivers Better Bang For Buck
• Illumina launches its first product enabling long- and short-read sequencing on one instrument
• Illumina and Myriad Genetics expand partnership to broaden access to HRD testing in the United States
• Dante Genomics launches Avanti Software for a plug-and-play genomic interpretation that takes minutes instead of hours
• The Sequencing Buyer’s Guide: 5th Edition A Front Line Genomics Report “From sample preparation workflows and new platform releases to single-cell analysis options and data analysis tools”
• QIAGEN and SOPHiA GENETICS Forge Partnership to Combine Strengths in Next-Generation Sequencing

Artificial Intelligence / Machine Learning

• OpenAI-powered app from Microsoft will instantly transcribe patient notes during doctor visits
• Google delves deeper into its AI-powered healthcare mission

Miscellaneous

• Podcast People of Precision Health Debuts to Explore How Leaders in Precision Health Research are Using Digital Methods and Tools to Successfully Build and Engage Human Cohorts
• Digital health CEOs look back with wisdom and ahead with measured optimism Rock Health hosted the 11th annual Digital Health CEO Summit in San Francisco, where they gathered with 120 leading digital health CEOs and founders. They convened for a day full of reflective discussions, shared learnings, and experiences to connect with old and new friends across the industry. This is their summary.
• Thermo Fisher Scientific Opens Cell Therapy Facility at University of California, San Francisco, to Accelerate Development of Breakthrough Therapies The partnership between Thermo Fisher and UCSF, first announced in 2021, has the potential to demonstrate that having scientists, clinicians, and patients closer to a manufacturing site may expedite the development of breakthrough treatments.
• Biocom California Statement on Illumina’s Proposed Acquisition of GRAIL Biocom California, the association representing the life science industry of California, issued a statement regarding their application to intervene in support of Illumina’s challenge to the European Commission’s jurisdiction over the acquisition of GRAIL
• Illumina Underscores Commitment to Shareholder Value and Responds to Carl Icahn’s Statements
• Oxford Nanopore and PathoQuest announce the first steps in a strategic collaboration to bring the first GMP-accredited, nanopore-based biologics genetic characterisation test to market
• Caris Life Sciences and Incyte Enter Into Broad Precision Medicine Partnership to Advance Incyte’s Oncology Pipeline
• German scientists develop a dashboard to ensure transparency for clinical trials Scientists at the BIH QUEST Center have developed a publicly accessible dashboard that displays how 35 German universities fare in terms of transparency of the clinical trials they have conducted. A total of some 3,000 clinical trials were evaluated for this purpose.
• A cartography of human histology is in the making It will identify and locate every type of cell in the human body

Silicon Valley Bank

• Silicon Valley Bank has a new owner. What it means for the bank crisis
• FDIC Creates a Deposit Insurance National Bank of Santa Clara to Protect Insured Depositors of Silicon Valley Bank, Santa Clara, California
• Silicon Valley Bank failure could wipe out ‘a whole generation of startups
• Silicon Valley Bank Fails After Run on Deposits One of the most prominent lenders in the world of technology start-ups, struggling under the weight of ill-fated decisions and panicked customers, collapsed on Friday, forcing the federal government to step in. The move put nearly $175 billion in customer deposits under the regulator’s control. A NY Times article.
• Here’s how the second-biggest bank collapse in U.S. history happened in just 48 hours
• Silicon Valley Bank is shut down by regulators in biggest bank failure since global financial crisis

COVID-19 / SARS-CoV-2

• COVID-origins report sparks debate over major genome hub GISAID GISAID revoked researchers’ access following the report, sparking discussion about findings based on data found in online repositories.
• COVID-origins study links raccoon dogs to Wuhan market: what scientists think Raccoon dogs, bamboo rats, palm civets: these are just some of the animals whose DNA has been found in swabs taken from the Huanan Seafood Wholesale Market in Wuhan, China, which has been linked to the origin of the COVID-19 pandemic. The swabs also tested positive for SARS-CoV-2, which causes the disease. The analysis — posted on 20 March to the research repository Zenodo — possibly provides evidence supporting the hypothesis that SARS-CoV-2 spilled over from animals to humans at the market, say some researchers.

Publications

• Spatial multiomics map of trophoblast development in early pregnancy
• An atlas of genetic scores to predict multi-omic traits Genetic scores for predicting levels of several types of biomolecule have been developed and validated in people of diverse ancestries, and used to uncover insights into disease biology. An open resource to disseminate these scores, OmicsPred, will enable researchers to predict various molecular traits from genetic profiles in their own data sets.
• Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients
• Genomic analyses of hair from Ludwig van Beethoven sheds light on chronic health problems and cause of death
• Genetic analyses identify brain structures related to cognitive impairment associated with elevated blood pressure
• Application of metagenomic next-generation sequencing in bloodstream infection regarding immunosuppression mNGS outperforms microbiological tests to diagnose bloodstream infections
• Monocyte-derived macrophages contain persistent latent HIV reservoirs HIV genomes that hide in white blood cells offer new target to eliminate infections
• Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association
• Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures
• Palmitoylation of the Parkinson’s disease–associated protein synaptotagmin-11 links its turnover to α-synuclein homeostasis
• YBX1-interacting small RNAs and RUNX2 can be blocked in primary bone cancer using CADD522
• Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk New genetic associations found for COPD in the largest study of its kind – the study, which included 580,869 participants, identified 1,020 independent disease association signals and implicated 559 genes from a variant-to-gene mapping framework 
• Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders The study’s findings are drawn from an analysis of genomic data from more than 1.1 million people of mostly European ancestry and a smaller population of people of African ancestry
• Decreased viral infection severity in females may be due to extra copy of X chromosome-linked gene
• Engineering epigenetic inheritance
• Discovery of Targets for Immune–Metabolic Antitumor Drugs Identifies Estrogen-Related Receptor Alpha 

News for the month of February 2023

Funding & IPO

• GE HealthCare agrees to buy AI imaging firm Caption Health in second acquisition GE HealthCare plans to pair its ultrasound machines with Caption’s applications for early disease detection.
• Will it? Won’t It? CVS Health To Finally Acquire Oak Street Health for $10.6B – The full Investor presentation: Creating the Premier Medicare Value-Based Platform

Precision / Genomic Medicine

• Precision Medicine: Are We Seeing More Rigorous Papers, With More Reasonable Claims?
• SOPHiA GENETICS Expands Partnership With AstraZeneca to Include Multimodal Approaches for Cancer Drug Development The expanded partnership aims to leverage the global SOPHiA DDM™ platform and multimodal algorithmic capabilities to lead a new era of precision oncology by improving early patient identification and diagnosis, optimizing clinical development, and accelerating adoption of innovative medications along the care pathwa
• How many babies die from genetic diseases because they’re not tested? Too many, researchers say Rady Children’s Institute for Genomic Medicine (RCIGM) researchers found that the contribution of genetic diseases to infant deaths was higher than previously recognized. Of 112 infant deaths evaluated, single-locus (Mendelian) genetic diseases were found to be the most common antecedent of infant mortality and associated with 41% of the deaths – Article in JAMA Network Open: Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
• Ireland Outlines National Strategy to Streamline Access to Genomic Medicine

(Genomics) Data Platform / Analysis / Instruments

• Element to Present Data and Innovation Roadmap at AGBT As per their press release: With its new Cloudbreak chemistry coming in April, Element is accelerating the power of sequencing with 20 percent faster runs and a simplified workflow with Elevate linear libraries, all with superior accuracy at the industry’s lowest cost. Element provides the highest quality sequencing on a benchtop for as low as $200 a genome, or $2 per gigabase.

(Genomics) Data Platform / Analysis / Instruments

• Illumina delivers first NovaSeq X Plus sequencer to the Broad Institute
• Tecan collaborates with Singular Genomics to take automated NGS library preparation into the future (AGBT)
• Tecan collaborates with Element Biosciences to provide benchtop NGS (AGBT)
• Complete Genomics Drops Genome Sequencing Price to Sub $100 at AGBT General Meeting (AGBT) The new instrument represents a T-series product evolution designed for large population genome projects. Using an open-type large sequencing slide cut from a whole silicon wafer, one DNBSEQ-T20×2 supports the operation of 6 slides simultaneously, producing up to 42Tb per run with PE100 or even 72Tb per run with PE150 in a smaller footprint than DNBSEQ-T10×4*.
• Arima Genomics and Velsera Announce Partnership to Enable Broad Adoption of Arima Gene Fusion Test in Clinical Laboratories

Artificial Intelligence / Machine Learning

• Predicting physician departure with machine learning on EHR use patterns: A longitudinal cohort from a large multi-specialty ambulatory practice Machine learning model predicts physician turnover

RWE / RWD

• Veradigm and HealthVerity Collaborate to Advance Real-World Evidence and Care for Patients with Cardiovascular Disease and Diabetes

Miscellaneous

• Layoffs and Shutdowns Hit Biotech Industry in U-Turn After years of easy money and heady growth, funding is slim and stocks are down
• Roche expands collaboration with Janssen to advance personalized healthcare through companion diagnostics
• Eurofins Genomics US Launches Express Oxford Nanopore Sequencing Service with Same-Day Results
• Data interoperability at the federal level requires cross-sector collaboration During a panel discussion at Digital Frontiers in Public Health, panelists discussed how the public and private sectors can work together to share data and improve public health.
• GoodRx Leaked User Health Data to Facebook and Google, F.T.C. Says The popular drug discount app deceptively shared details on users’ illnesses and medicines with ad firms, regulators said in a legal complaint.

COVID-19 / SARS-CoV-2

• Biden’s plan for ending the emergency declaration for COVID-19 signals a pivotal point in the pandemic – 4 questions answered
• Genetics might explain why some people have never had COVID – but we shouldn’t be too focused on finding out
• White House plans to end COVID emergency declarations May 11 An average of more than 500 people in the U.S. are still dying from COVID-19 each day, about twice the number of deaths per day during a bad flu season.
• The NIH-led research response to COVID-19 Outlines key milestones and crucial lessons learned, with the goal of informing and guiding the research community’s response to future pandemics.

Publications

• ChatGPT: the future of discharge summaries?
• Epigenetics as a mediator of plasticity in cancer
• Simultaneous sequencing of genetic and epigenetic bases in DNA
• Day-night and seasonal variation of human gene expression across tissues
• Polygenic architecture of rare coding variation across 394,783 exomes
• Common activities and predictive gene signature identified for genetic hypomorphs of TP53
• Deletion of SNX9 alleviates CD8 T cell exhaustion for effective cellular cancer immunotherapy
• Synapse-tuned CARs enhance immune cell anti-tumor activity Scientists create more efficient CAR immunotherapies using a molecular anchor

News for the month of January 2023

January started off with the 41st edition of the annual JP Morgan Healthcare conference which typically provides a rich source of news across the healthcare sector, including updates on mergers and acquisitions. This year we learned about the formation of Velsera as a result of combining Seven Bridges with PierianDx and Urgentec. Velsera’s goal is to create a software platform out of science, technology, and informatics, making data actionable, accelerating the pace and including the potential of multi-omics. A more detailed summary of newsworthy activities in the various therapeutic areas can be found in Insights and Key Takeaways of the JP Morgan Healthcare Conference.

Another not too surprising highlight included Nature Methods calling long-read sequencing the Method of the year 2022, this after the success of the Telomere-to-Telomere (T2T) Consortium presenting the first ever complete human genome using long-read sequencing. The two most widely used commercial technologies are Pacific Biosciences’ Single Molecule Real-Time (SMRT) sequencing (average read length ~20 kb with >99.9% accuracy for HiFi reads) and Oxford Nanopore Technologies’ nanopore sequencing (average read length ~100 kb for ultra-long reads, ~99% accuracy for R10.4).

Additional news included Alphabet’s Verily announcing layoffs amid strategic restructuring, Sema4 Announcing name change to GeneDx, and the launch of the clinical trial company Paradigm with $203M in funding to build a clinical research platform for provider and pharma customers.

Funding & IPO

• Levels Secures $7M Series A Extension Funding
• Teal unwraps $8.8M to build out a telehealth platform for women — starting with cervical cancer screening
• Clinical trial tech company Paradigm launches with $203M in funding Paradigm will use the money to build a clinical research platform for provider and biopharmaceutical customers.
• Atomic AI Launches with $35 Million Series A Financing to Advance AI-driven RNA Structure Platform for Treating Undruggable Diseases
• Eagle Genomics’ Scale-Up Funding from OMRON Ventures to Drive Sustainability Innovation in Microbiome R&D The funds will support the ongoing development of Eagle Genomics’ e[datascientist]^™ platform as well as continued global expansion and increased client impact
• Perspectum Completes $36 Million First Close of Series C
• LinusBio Raises $16 Million to Scale Growth and Deliver Tangible Outcomes
• BIOHM Raises $7.5 Million to Accelerate Microbiome Research, Artificial Intelligence Capabilities and Product Development
• CRISPR QC Closes Seed Round at $1.6M to Fuel Commercial Growth of Their CRISPR Analytics Platform
• Nest Genomics Raises $8.5M in Seed Funding to Increase Access to Patients’ Genetic Information Nest Genomics provides the software infrastructure needed for health systems, clinics, drugmakers and payers to launch and scale genomic programs
• Agilent Investing $725 Million to Expand State-of-the-Art Manufacturing Capacity for Production of Nucleic Acid-Based Therapeutics

Mergers & Acquisitions

• Editas Medicine and Shoreline Biosciences Enter into Definitive Agreement for Shoreline to Acquire Editas’ iNK Cell Franchise and Related Gene Editing Technologies
• Ensoma Announces $85 Million Financing and Agreement to Acquire Twelve Bio to Advance Portfolio of In Vivo Engineered Cellular Medicines
• New Company, Velsera, Represents Summa Equity’s Vision to Improve Global Health Outcomes Velsera combines Seven Bridges, PierianDx, with Urgentec

Precision Medicine

• Accelerating cancer omics and precision oncology in health care and research: a Lancet Oncology Commission
• UK landmark genomic partnership with Thailand to unite against health threats UK signs memorandum of understanding with Thailand to boost genomics expertise and explore mutual priorities for improving patient outcomes.
• The human genome needs updating. But how do we make it fair? Healthcare’s standard genome is mostly based on one American. As we enter the era of personalised medicine, this bias has drawbacks for much of the world’s population
• All of Us Seeks Proposals to Support Future Participant Experience The All of Us Research Program is looking for innovative solutions that will amplify the strengths of the program, provide the next generation of their platform to evolve their capabilities, and meet the needs of their program partners and participants.
• BC Platforms Selected as Partner to Deliver key Singapore Population Health Study

(Genomics) Data Platform / Analysis / Instruments

• Method of the Year 2022: long-read sequencing Nature Methods calls long-read sequencing the Method of the year 2022 and this on the heel of the success of the Telomere-to-Telomere (T2T) Consortium which presented the first complete human genome. This achievement was made possible by a wide range of experimental and computational efforts. Among them was long-read sequencing, the main sequencing technology responsible for generating the T2T data, which arguably laid the foundation of this feat.
• Complete Genomics Launches Full Sequencing Platforms at Biotech Showcase™ 2023 at JP Morgan 2023
• Element Delivers $200 Genome on AVITI™ Benchtop Sequencing System, or $2 per gigabase. For single cell sequencing, the new model offers potential costs as low as $0.60 per million reads, with sequencing runs finishing in less than 24 hours 

Genomic/Genetic Testing/CDx/Liquid Biopsy

• Guardant Health introduces Guardant Galaxy^TM suite of advanced AI analytics to enhance its portfolio of cancer tests and accelerate biomarker discovery
• 50% Not Tested: Precision Oncology with Jerome Madison, Invitae A Mendelspod podcast with Jerome Madison (General Manager of Oncology at Invitae) discussing Invitae’s approach to addressing the opportunities and challenges of cancer genetic testing.
• QIAGEN and Helix Launch Exclusive Partnership to Advance Next-Generation Sequencing Companion Diagnostics in Hereditary Diseases

CRISPR / Cas9

• Crispr Wants to Feed the World The power to fight human diseases put genome editing on the map. But similar technology could help crops withstand the stress of climate change.

Artificial Intelligence / Machine Learning

• A.I. Turns Its Artistry to Creating New Human Proteins Inspired by digital art generators like DALL-E, biologists are building artificial intelligences that can fight cancer, flu and Covid.
• Top Artificial Intelligence Companies In Healthcare To Keep An Eye On Includes Google Health/DeepMind, Augmedix, CloudMedX Health, Babylon Health, Enlitic, Arterys, Atomwise, Recursion Pharmaceuticls, iCarbonX, and Deep Genomics.
• Microsoft is making a strategic investment in Paige, which is leveraging AI for cancer diagnostics and treatment Paige will also use Microsoft Azure as its cloud provider for the Paige Platform.
• Google Research and DeepMind develop AI medical chatbot with a large language model for the medical community, which could generate safe and helpful answers using datasets covering professional medical exams, research and consumer queries.

Miscellaneous

• Former Oracle exec Troy Tazbaz tapped as FDA director of digital health
• Amazon Launches $5 A Month Prescription Drug Scheme As It Leaps Further Into Healthcare RxPass will allow U.S. Prime members to fill as many prescriptions as they need from a list of more than 50 generic medications and have them delivered free of charge.
• ASHG releases report: Facing our History – Building an Equitable Future Initiative This report is the product of a major year-long initiative to acknowledge and reckon with past injustice, as well as progress toward justice, within the American Society of Human Genetics (ASHG) and the broader human genetics field. The Society for its involvement in and silence on the misuse of human genetics research to justify and contribute to injustices in all forms. It commits to sustain and expand its integration of equitable and just principles in the study and use of human genetics research, taking both immediate actions and swiftly determining longer-term goals it will set to realize the benefits of human genetics and genomics research for all.
• Alphabet’s Verily announces layoffs amid strategic restructuring The layoffs will help Verily refine its strategy, prioritize its product portfolio and simplify its operating model.
• UCSF Health received fewer patient portal messages after letting clinicians choose when to charge
• Pfizer pivots from early-stage rare disease R&D, shifting to external innovation and putting assets up for sale
• Genomic Medicine Translational Protocols – What Do They Mean for Patients Everywhere?
• What the FDA’s accelerated approval of a new Alzheimer’s drug could mean for those with the disease – 5 questions answered about lecanemab Potentially Iecanemab could be a game changer for people with early-stage Alzheimer’s disease, as the medication has the potential to interfere with the progression of Alzheimer’s disease by removing beta-amyloid from the brains of people who are suffering with it
• Sema4 Announces Name Change to GeneDx and Provides Preliminary 2022 Financial Results and 2023 Guidance
• Digging Deep to Release the Power of the Proteome
• CVS Health Makes Waves During JPM: Experts Weigh In CVS Health announced investments this week in Carbon Health, Monogram Health and Array Behavioral Care. There have also been rumors that the company is exploring a $10 billion deal with primary care company Oak Street Health.

Cancer Vaccines

• Moderna’s experimental cancer vaccine treats but doesn’t prevent melanoma—a biochemist explains how it works

COVID-19 / SARS-CoV-2

• Pfizer eyes big drop in COVID-related revenues in 2023

Publications

• Multidimensional endotyping using nasal proteomics predicts molecular phenotypes in the asthmatic airways
• Structure of the Inmazeb cocktail and resistance to Ebola virus escape
• Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
• FinnGen provides genetic insights from a well-phenotyped isolated population 30 new associations were identified, primarily low-frequency variants, enriched in the Finnish population.
• Beyond Mendel: Study sheds new light on well-established theories of genetic inheritanceA large-scale biobank-based study performed in Finland has discovered several new disease genes as well as new insights on how known genetic factors affect disease. The study highlights an underappreciated complexity in the dosage effects of genetic variants. – a Nature article
• Are we prepared to deliver gene-targeted therapies for rare diseases? The article considers practical and strategic considerations that need to be addressed to establish a foundation for the early, effective, and equitable delivery of these treatments.
• Genotype first: Clinical genomics research through a reverse phenotyping approach
• Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
• Simultaneous identification of viruses and viral variants with programmable DNA nanobait The test uses DNA ‘nanobait’ to detect the most common respiratory viruses – including influenza, rhinovirus, RSV and COVID-19 – at the same time. In comparison, PCR (polymerase chain reaction) tests, while highly specific and highly accurate, can only test for a single virus at a time and take several hours to return a result
• Loss of epigenetic information as a cause of mammalian aging
• Anatomically interpretable deep learning of brain age captures domain-specific cognitive impairment AI-powered analysis accurately risk of cognitive decline and Alzheimer’s disease

Following are archived industry news

Industry News – 2022

Industry News – 2021

Industry News – 2020

Industry News – 2019

Industry News – 2018

Industry News – 2017

COVID-19 / SARS-CoV-2

Collated COVID-19/SARS-CoV-2 Information