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 April 2024

Publications

Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals They zeroed in on the single nucleotide polymorphism (SNP), or genetic variant, rs16969968, known as “Mr. Big” because it has been the mostly widely replicated genetic variant associated with smoking behaviors. Mr. Big is located in a gene called CHRNA5F (nicotinic acetylcholine receptor 5) and influences how well nicotine binds to receptors in the brain. People with a certain version of Mr. Big, known as the AA version, are less sensitive to nicotine and have been shown to smoke more.

News for the month of March 2024

Funding & IPO

Surge announces closing of a €7.5 million fundraising round to decrypt the immune system and transform precision medicine Surge, specialized in high-dimensional immune system analysis combined with artificial intelligence
Eli Lilly-backed Zephyr AI secures $111m for precision medicine tech
BeiGene spin-out Pi Health raises $30m to uptick cancer trial enrollment
Assort Health Secures $3.5M for Generative AI Solution for Healthcare Call Centers
Nalu Medical Closes $85M Series E Round Nalu’s neurostimulation system delivers electrical pulses to the nervous system to modulate pain signals before they reach the brain
PreemptiveAI Emerges From Stealth With a Groundbreaking Biomedical Foundation Model For Health Prediction
Siolta Therapeutics Raises $12 Million in Series C Financing for Clinical Development
Milu Health: $4.8 Million Raised To Use AI For Driving Costs Savings In Healthcare
Hippocratic AI banks $53M Launched out of stealth about a year ago, Hippocratic AI launched its first generative AI product and pocketed $53 million in series A funding
Tiny Health, Pioneer of the First At-Home Baby Gut Microbiome Test, Aims to Address the Pediatric Chronic Conditions Crisis – Raises $8.5M in Series A
b.well Connected Health scores $40M to accelerate growth
Matter Neuroscience Raises $26M in Funding – a NYC-based company providing people with personalized insights into their brain chemistry
Alithea Genomics Closes CHF 2.8 Million in Seed Financing Extension Led by Novalis Biotech to launch new RNA sequencing products, expand production capacity, develop new technologies and open US subsidiary

Mergers & Acquisitions

Elevance to buy Kroger’s specialty pharmacy

Precision Medicine

Nucleus Genomics launches to bring whole-genome sequencing to the public us They announced the launch of its DNA analysis product to bring the benefits of personalized medicine to everyone. For a yearly membership fee of $39, members will receive access to new features on Nucleus’ platform, as well as new disease reports and, eventually, reports for traits like height and muscle strength. The 30x WGS kit costs $399.
Fabric Genomics Partners with Intermountain Children’s Health to Enhance Precision Diagnosis of Infants and Children Using Whole Genome Sequencing from Broad Clinical Labs
The Jackson Laboratory and LG AI Research partner to pioneer biomedical advancements
Fabric Genomics Partners with Intermountain Children’s Health to Enhance Precision Diagnosis of Infants and Children Using Whole Genome Sequencing from Broad Clinical Labs

(Omics) Data Platform / Sequencing / Analysis / Instruments

Estonia National Biobank Selects PacBio to Sequence 10,000 Whole Genomes
DNAnexus Adds NVIDIA NIM and CUDA-X Microservices to Precision Health Data Cloud to Accelerate Drug Discovery and Improve Patient Care These microservices are designed to allow researchers and bioinformaticians to easily integrate NVIDIA Parabricks tools into new and existing genomics workflows using the DNAnexus Precision Health Data Cloud to accelerate drug discovery and improve patient care.
Watchmaker Genomics Launches Watchmaker mRNA Library Prep Kits – Featuring a Rapid Workflow and Sensitive mRNA Detection
seqWell Launches First Assay-ready, 384-well Library Preparation Kit to Enable Ultra-high Throughput Plasmid and Synthetic Construct Sequencing
Revvity Introduces New Workflow to Accelerate Newborn Sequencing Research

Genomic / Genetic Testing / CDx

Putting Patients First: Why Congress Must Pass Diagnostic Test Reform An opinion piece by Thierry Bernard (CEO, QIAGEN) and Scott Whitaker (CEO, AdvaMed). This piece highlights the critical role of diagnostics in healthcare decisions and the need for consistent standards and collaborations between private and public sectors to improve patient care. It touches on the impact of the COVID-19 pandemic, which definitely highlighted the relevance of diagnostics in the healthcare value chain. It also proved that patient care makes tremendous progresses when private and public actors come together and act as one. Hospitals are, on average, spending less than 4% of their budget on diagnostics, at very least > 70% of the medical decisions taken for a given patients are impacted by a diagnostic result.
Bayer AG and Thermo Fisher Scientific Inc. collaborate to develop next-generation sequencing (NGS)-based companion diagnostic assays (CDx) together
Labcorp Presents New Research Demonstrating Clinical Impact of Precision Diagnostics in Guiding Biomarker-targeted Therapies for Patients with Epithelial Ovarian Cancer

Artificial Intelligence / Machine Learning / Generative AI

Miscellaneous

WebMD Health Services Announces Strategic Partnership with Verily’s Onduo to Enhance Employee Health and Well-Being
The new era of consumer engagement: Insights from Rock Health’s ninth annual Consumer Adoption Survey Virtual care is now a ubiquitous part of the modern healthcare paradigm
Eli Lilly partners with Amazon Pharmacy for home delivery of its weight loss, diabetes and migraine drugs
Google launches AI-backed search-and-answer tool for doctors
Genseq Selects Sapio LIMS to Power Best-in-Class Next-Generation Sequencing Services
FDA Approves a new indication for use for Wegovy (semaglutide) to Reduce Risk of Serious Heart Problems Specifically in Adults with Obesity or Overweight
Biden Signs Executive Order to Expand Research on Women’s Health
Mark Cuban’s Cost Plus Drugs will begin manufacturing its own medications this week
CVS and Walgreens Will Begin Selling Abortion Pills This Month The pill mifepristone will be available with a prescription at pharmacy counters in a few states to start

Publications

Fourier Transform Infrared microspectroscopy identifies single cancer cells in blood. A feasibility study towards liquid biopsy Study used FTIR microspectroscopy combined with a machine learning algorithm and was able to identify a single lung cancer cell in a sample of blood.
Comprehensive whole-genome sequence analysis provides insights into the genomic architecture of cerebral palsy Whole-genome sequencing was conducted in 327 children with CP, including their biological parents, and compared it to three independent clinical cohorts as well as two pediatric control cohorts, to identify whether genetic variants may be involved in CP. The seven-year study found that more than one in ten children (11.3 percent) had a genetic variant or likely genetic variant for their CP, and 17.7 percent of children had variants of uncertain significance that may be linked with CP after further research. Many of the variants also overlapped with other neurodevelopmental conditions, including autism spectrum disorder (ASD), which is highly prevalent in children with CP.
The effects of genetic and modifiable risk factors on brain regions vulnerable to aging and disease Study determined the genetic influences and the impact of modifiable risk factors (MRFs) on a brain network vulnerable to aging, schizophrenia, and Alzheimer’s disease in approximately 40,000 United Kingdom (UK) Biobank participants. Included data from 39,676 participants who underwent structural T1-weighted brain scans.
Key variants via the Alzheimer’s Disease Sequencing Project whole genome sequence data Seventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1/NFYA/TREML1, JAZF1, FERMT2, and SLC24A4. KAT8 was implicated by both single variant and rare variant aggregate analyses. The analyses were restricted to variants within 100 kb of 83 previously identified GWAS lead variants.
Population-level comparisons of gene regulatory networks modeled on high-throughput single-cell transcriptomics data They present SCORPION, a tool that uses a message-passing algorithm to reconstruct comparable gene regulatory networks from single-cell/nuclei RNA-sequencing data that are suitable for population-level comparisons by leveraging the same baseline priors.
The relationship between 11 different polygenic longevity scores, parental lifespan, and disease diagnosis in the UK Biobank Using data from four studies that connect genetic variants to lifespan, scientists have developed 11 different polygenic longevity scores (PLS) that predict both long life and resilience to some age-related conditions such as Alzheimer’s disease and heart disease. The researchers, led by scientists from the Translational Genomics Research Institute (TGen), part of City of Hope, constructed the scores and tested them with genomic data collected by UK BioBank, which represents around 480,000 people from the United Kingdom who were between the ages of 40 and 69 at the time the BioBank study was underway.
Multi-ancestry polygenic mechanisms of type 2 diabetes Genetic study identified various genetic clusters involved in a broad range of biological mechanisms that may help explain ancestry-associated differences in type 2 diabetes clinical presentations.
Patient derived tumoroids of high grade neuroendocrine neoplasms for more personalized therapies
For childhood cancer survivors, inherited genetic factors influence risk of cancers later in life
Systemic proteome adaptions to 7-day complete caloric restriction in humans Researchers followed 12 healthy volunteers taking part in a seven-day water-only fast. The volunteers were monitored closely on a daily basis to record changes in the levels of around 3,000 proteins in their blood before, during, and after the fast. As expected, the researchers observed the body switching energy sources—from glucose to fat stored in the body—within the first two or three days of fasting. The volunteers lost an average of 5.7 kg of both fat mass and lean mass. After three days of eating after fasting, the weight stayed off—the loss of lean was almost completely reversed, but the fat mass stayed off.
fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles

News for the month of February 2024

Funding & IPO

BlossomHill Therapeutics Closes $100 Million Series B Financing – a biotechnology company that focuses on the design and development of small molecule medicines for treating cancer and autoimmune diseases. BlossomHill Therapeutics was founded by Jean Cui, a former Pfizer chemist whose last company was sold to Bristol Myers Squibb for $4 billion.
Interdisciplinary project aims to decode human kinome in brain function and disease – Receives CZI Grant
BioAge secures $170m for obesity therapeutics development
Invitae files for Chapter 11 protection, pursues sale process
$1.9M NIH grant to support research on impacts of the microbiome on human health
Nanostring Initiates Voluntary Chapter 11 Restructuring Proceedings with Additional $40 Million in Financing Secured from Existing Noteholders to Facilitate Process Continuing to Serve Life Sciences Researchers Worldwide NanoString Takes Steps to Restructure Its Business and Protect Its Mission to Map the Universe of Biology
NanoString files for bankruptcy, explores potential sale amid patent battle with 10x Genomics

Precision Medicine

Genomic data in the All of Us Research Program Landmark paper of the All of Us Research Program demonstrating the most diverse biobank to date with half of the genomes from non-Europeans. All of Us identified more than 1 billion genetic variants, including more than 275 million previously unreported genetic variants, more than 3.9 million of which had coding consequences. Leveraging linkage between genomic data and the longitudinal electronic health record, we evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across both participants of European ancestry and participants of African ancestry.
‘All of Us’ reports half of the genomes it has sequenced are from non-Europeans

(Omics) Data Platform / Sequencing / Analysis / Instruments

QIAGEN launches AI-derived biomedical knowledge base to accelerate data-driven drug discovery QIAGEN Biomedical KB-AI contains over 640 million biomedical relationships, including gene, disease, and drug causal relationships, to aid in data-driven drug discovery
DNAnexus and LORENZ Partner To Enable Collaborative Regulatory Submission Validation and Scientific Review in the Cloud
Golden Helix is Launching VSPGx, a pharmacogenomics solution for hospitals and testing labs
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Ultima Announces UG 100^™ and Reveals Disruptive Cost and Accuracy Profile to Enable the Era of the $100 Genome and Beyond (AGBT 2024)
Complete Genomics and seqWell Announce Co-development Partnership at AGBT (AGBT 2024)
Illumina Reports Financial Results for Fourth Quarter and Fiscal Year 2023
PacBio Announces HiFi Prep Kit 96 and HiFi Plex Prep Kit 96 for Long-Read Sequencing Applications at Scale (AGBT 2024)
Integrated DNA Technologies and Element Biosciences Accelerate Next Generation Sequencing Workflows for Element’s AVITI™ System (AGBT 2024)
Volta Labs and Watchmaker Genomics Partner to Simplify and Optimize NGS Library Prep (AGBT 2024)
Scale Biosciences Unveils Platform for Dramatic Scaling of Single-Cell Experiments and Announces Partnerships to Drive Ease of Use and Enable New Biological Insights (AGBT 2024)
Element to Present Data on New Products and Multi-Omics Capabilities (AGBT 2024)
Element Biosciences and DNAnexus® Announce Collaboration to Advance Multi-Omics Analysis (AGBT 2024) The collaboration allows customers to stream data from Element’s AVITI™ System directly to their DNAnexus account.

Genomic / Genetic Testing / CDx

Gattaca Genomics Leads the Way in Revolutionizing Fertility with Artificial Intelligence for Full Genome Analysis, Including Preimplantation Genetic Testing and Genetic Counseling

Spatial Genomics / Single Cell Genomics

CRISPR/Genome Editing

Turbocharging CRISPR to Understand How the Immune System Fights Cancer
New CRISPR Gene-Editing Treatment Approved In Europe For Inherited Blood Disorders
CRISPRed Pigs: Precision Porcine Gene Editing Combats PRRS Virus Threat Scientists are seeking FDA approval to bring the edited pigs to market.

Miscellaneous

Publications

An atlas of epithelial cell states and plasticity in lung adenocarcinoma
Single-cell spatial transcriptomic and translatomic profiling of dopaminergic neurons in health, aging, and disease
Effect of Behavioral Health Disorders on Surgical Outcomes in Cancer Patients
Genomic evolution shapes prostate cancer disease type
‘All of Us’ Research Program Identifies 275 Million New Genetic Variants Researchers have discovered more than 275 million previously unreported genetic variants, identified from data shared by nearly 250,000 participants of the National Institutes of Health’s All of Us Research Program. Half of the genomic data are from participants of non-European genetic ancestry. The unexplored cache of variants provides researchers new pathways to better understand the genetic influences on health and disease, especially in communities that have been left out of research in the past. The findings are detailed in Nature, alongside three other articles in Nature journals.
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation
Spatial functional mapping of hypoxia inducible factor heterodimerisation and immune checkpoint regulators in clear cell renal cell carcinoma Scientists have developed a new AI tool that maps the function of proteins in a cancerous tumor (clear cell renal cell carcinoma (ccRCC)), enabling clinicians to decide how to target treatment in a more precise way.
Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever The study analyzed Lassa fever susceptibility and fatal outcomes in 533 cases of Lassa fever and 1,986 population controls recruited over a 7 year period in Nigeria and Sierra Leone. They detected genome-wide significant variant associations with Lassa fever fatal outcomes near GRM7 and LIF in the Nigerian cohort.
Stanford Medicine-led study shows why women are at greater risk of autoimmune disease

News for the month of January 2024

Funding and IPO

SmartLabs Announces $48 Million Series C Funding to Advance Its Laboratory Infrastructure and Resourcing Solutions

Precision Medicine

Illusory generalizability of clinical prediction models The quest for personalized medicine, a medical approach in which practitioners use a patient’s unique genetic profile to tailor individual treatment, has emerged as a critical goal in the health care sector. But a new Yale-led study shows that the mathematical models currently available to predict treatments have limited effectiveness.

(Omics) Data Platform / Sequencing / Analysis / Instruments

DNAnexus and Intelliseq Combine Efforts to Add Automated Genomic Variant Interpretation and Clinical Reporting Capabilities to Precision Health Data Cloud
Terra is Now Generally Available on Microsoft Azure The Broad Institute of MIT and Harvard has made Terra generally available on Microsoft Azure. Terra is Broad’s flagship biomedical data platform, co-developed by Broad, Microsoft, and Verily. The open-source platform is used by over 65,000 individuals globally for biomedical data analysis, secure data sharing, and cross-enterprise data science collaborations. Through Terra, researchers can gain access to genomics and other data modalities used for biomedical research, as well as run state-of-the-art workflows developed by Broad and wider bioinformatics community.
Ultima Genomics launching high-end DNA sequencers that can read genome for $100

Miscellaneous

Publications

Myeloid and lymphoid expression of C9orf72 regulates IL-17A signaling in mice This new study uncovers why gene is believed to be responsible for ALS and dementia
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination Over 114 thousand women from Iceland, Denmark, UK, USA and Finland who have experienced pregnancy loss participated in a genome-wide association study, were tested for50 million sequence variants. A low frequency missense variant in the SYCE2 gene was found to increase the risk of pregnancy loss by 22%.
Inceptor counteracts insulin signalling in β-cells to control glycaemic Research targeting the insulin-inhibitory receptor, called “inceptor,” unveils promising avenues for beta cell protection, offering hope for causal diabetes therapy. A novel study in mice with diet-induced obesity demonstrates that the knock-out of inceptor enhances glucose regulation, prompting its further exploration as a drug target for type 2 diabetes treatment.
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme The study, led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster, analyzed data covering over 30 types of solid tumors collected from more than 13,000 participants with cancer in the 100,000 Genomes Project. By looking at the genomic data alongside routine clinical data collected from participants over a 5-year period, such as hospital visits and the type of treatment they received, scientists were able to find specific genetic changes in the cancer associated with better or worse survival rates and improved patient outcomes.
A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma
Adjusting for genetic confounders in transcriptome-wide association studies improves discovery of risk genes of complex traits A new statistical tool developed by researchers at the University of Chicago improves the ability to find genetic variants that cause disease. The tool combines data from genome wide association studies (GWAS) and predictions of genetic expression to limit the number of false positives and more accurately identify causal genes and variants for a disease.
Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference