❌

Normal view

Moving beyond monogenic disorders in clinical healthcare

Nature Biotechnology, Published online: 05 January 2026; doi:10.1038/s41587-025-02931-2

Our understanding of the genetic mechanisms underlying rare diseases has rapidly advanced over the past decade, largely because of technological innovations. Yet clinical practice still has a strong monogenic focus, leaving many individuals undiagnosed. This Comment outlines how technological advances such as long-read sequencing should be adopted to increase multivariant testing in the clinic.

Integrated experimental and AI innovations for RNA structure determination

Nature Biotechnology, Published online: 05 January 2026; doi:10.1038/s41587-025-02974-5

RNA’s dynamic nature and complex physiochemical properties make it difficult to structurally resolve. This Perspectives examines how integrating experimental and computational approaches to structure determination can address this challenge.

The ethics of multi-cancer screening

Nature Medicine, Published online: 05 January 2026; doi:10.1038/s41591-025-04111-w

Multi-cancer detection tests offer a new paradigm in cancer screening — the use of a single test to simultaneously screen for many cancers — but they raise important ethical questions for their development, evaluation and possible implementation.
  • ✇Nature Medicine
  • Silenced genomes Sofia Moutinho
    Nature Medicine, Published online: 05 January 2026; doi:10.1038/s41591-025-04161-0Projects worldwide push for more diverse genomic databases across Asia, Africa and the Americas.
     
  • ✇Nature Cancer
  • From embryos to cancer M. Angela Nieto
    Nature Cancer, Published online: 05 January 2026; doi:10.1038/s43018-025-01098-8Angela Nieto received her PhD from Universidad Autónoma in Madrid in 1987. After short postdoctoral stays in Madrid and at the Max Planck Institute for Psychiatry in Munich, she joined the National Institute for Medical Research in London in 1989 and returned to Spain in 1993 to lead a research group at the Cajal Institute. She moved to the Neurosciences Institute in Alicante in 2004 as full professor and head of dev
     

From embryos to cancer

5 January 2026 at 08:00

Nature Cancer, Published online: 05 January 2026; doi:10.1038/s43018-025-01098-8

Angela Nieto received her PhD from Universidad Autónoma in Madrid in 1987. After short postdoctoral stays in Madrid and at the Max Planck Institute for Psychiatry in Munich, she joined the National Institute for Medical Research in London in 1989 and returned to Spain in 1993 to lead a research group at the Cajal Institute. She moved to the Neurosciences Institute in Alicante in 2004 as full professor and head of developmental neurobiology. She currently leads the cell plasticity in health and disease program and coordinates the Spanish National Research Council Cancer Hub.

Democratizing Electronic-Photonic AI Systems: An Open-Source AI-Infused Cross-Layer Co-Design and Design Automation Toolflow

arXiv:2601.00130v1 Announce Type: cross Abstract: Photonics is becoming a cornerstone technology for high-performance AI systems and scientific computing, offering unparalleled speed, parallelism, and energy efficiency. Despite this promise, the design and deployment of electronic-photonic AI systems remain highly challenging due to a steep learning curve across multiple layers, spanning device physics, circuit design, system architecture, and AI algorithms. The absence of a mature electronic-photonic design automation (EPDA) toolchain leads to long, inefficient design cycles and limits cross-disciplinary innovation and co-evolution. In this work, we present a cross-layer co-design and automation framework aimed at democratizing photonic AI system development. We begin by introducing our architecture designs for scalable photonic edge AI and Transformer inference, followed by SimPhony, an open-source modeling tool for rapid EPIC AI system evaluation and design-space exploration. We then highlight advances in AI-enabled photonic design automation, including physical AI-based Maxwell solvers, a fabrication-aware inverse design framework, and a scalable inverse training algorithm for meta-optical neural networks, enabling a scalable EPDA stack for next-generation electronic-photonic AI systems.

FedSEA-LLaMA: A Secure, Efficient and Adaptive Federated Splitting Framework for Large Language Models

arXiv:2505.15683v4 Announce Type: replace-cross Abstract: Private data holds promise for improving LLMs due to its high quality, but its scattered distribution across data silos and the high computational demands of LLMs limit their deployment in federated environments. To address this, the transformer-based federated split models are proposed, which offload most model parameters to the server (or distributed clients) while retaining only a small portion on the client to ensure data privacy. Despite this design, they still face three challenges: 1) Peer-to-peer key encryption struggles to secure transmitted vectors effectively; 2) The auto-regressive nature of LLMs means that federated split learning can only train and infer sequentially, causing high communication overhead; 3) Fixed partition points lack adaptability to downstream tasks. In this paper, we introduce FedSEA-LLaMA, a Secure, Efficient, and Adaptive Federated splitting framework based on LLaMA2. First, we inject Gaussian noise into forward-pass hidden states to enable secure end-to-end vector transmission. Second, we employ attention-mask compression and KV cache collaboration to reduce communication costs, accelerating training and inference. Third, we allow users to dynamically adjust the partition points for input/output blocks based on specific task requirements. Experiments on natural language understanding, summarization, and conversational QA tasks show that FedSEA-LLaMA maintains performance comparable to centralized LLaMA2 and achieves up to 8x speedups in training and inference. Further analysis of privacy attacks and different partition points also demonstrates the effectiveness of FedSEA-LLaMA in security and adaptability.

Digital Twin based Automatic Reconfiguration of Robotic Systems in Smart Environments

arXiv:2511.00094v2 Announce Type: replace-cross Abstract: Robotic systems have become integral to smart environments, enabling applications ranging from urban surveillance and automated agriculture to industrial automation. However, their effective operation in dynamic settings - such as smart cities and precision farming - is challenged by continuously evolving topographies and environmental conditions. Traditional control systems often struggle to adapt quickly, leading to inefficiencies or operational failures. To address this limitation, we propose a novel framework for autonomous and dynamic reconfiguration of robotic controllers using Digital Twin technology. Our approach leverages a virtual replica of the robot's operational environment to simulate and optimize movement trajectories in response to real-world changes. By recalculating paths and control parameters in the Digital Twin and deploying the updated code to the physical robot, our method ensures rapid and reliable adaptation without manual intervention. This work advances the integration of Digital Twins in robotics, offering a scalable solution for enhancing autonomy in smart, dynamic environments.

Artificial intelligence in hepatopathy diagnosis and treatment: Big data analytics, deep learning, and clinical prediction models

World J Gastroenterol. 2025 Dec 14;31(46):111176. doi: 10.3748/wjg.v31.i46.111176.

ABSTRACT

Artificial intelligence (AI) is rapidly transforming the landscape of hepatology by enabling automated data interpretation, early disease detection, and individualized treatment strategies. Chronic liver diseases, including non-alcoholic fatty liver disease, cirrhosis, and hepatocellular carcinoma, often progress silently and pose diagnostic challenges due to reliance on invasive biopsies and operator-dependent imaging. This review explores the integration of AI across key domains such as big data analytics, deep learning-based image analysis, histopathological interpretation, biomarker discovery, and clinical prediction modeling. AI algorithms have demonstrated high accuracy in liver fibrosis staging, hepatocellular carcinoma detection, and non-alcoholic fatty liver disease risk stratification, while also enhancing survival prediction and treatment response assessment. For instance, convolutional neural networks trained on portal venous-phase computed tomography have achieved area under the curves up to 0.92 for significant fibrosis (F2-F4) and 0.89 for advanced fibrosis, with magnetic resonance imaging-based models reporting comparable performance. Advanced methodologies such as federated learning preserve patient privacy during cross-center model training, and explainable AI techniques promote transparency and clinician trust. Despite these advancements, clinical adoption remains limited by challenges including data heterogeneity, algorithmic bias, regulatory uncertainty, and lack of real-time integration into electronic health records. Looking forward, the convergence of multi-omics, imaging, and clinical data through interpretable and validated AI frameworks holds great promise for precision liver care. Continued efforts in model standardization, ethical oversight, and clinician-centered deployment will be essential to realize the full potential of AI in hepatopathy diagnosis and treatment.

PMID:41479639 | PMC:PMC12754151 | DOI:10.3748/wjg.v31.i46.111176

A clinically validated 3D deep learning approach for quantifying vascular invasion in pancreatic cancer

npj Digital Medicine, Published online: 31 December 2025; doi:10.1038/s41746-025-02260-3

A clinically validated 3D deep learning approach for quantifying vascular invasion in pancreatic cancer
  • ✇STAT
  • Opinion: New medical technology presents hospitals with a prisoner’s dilemma James L. Whiteside and Dmitry Tumin
    In 2026, Medtronic plans to launch a new robot to compete with a legacy market leader. This new robot is reportedly cheaper both in startup and sustained costs. That’s a welcome direction for any new medical technology, but it ignores a problem that hospitals, especially rural ones, face relating to technology and physician training. Sometimes, rational decisions made in isolation lead to irrational outcomes for everyone involved. This is the lesson of the prisoner’s dilemma, a classic game t
     

Opinion: New medical technology presents hospitals with a prisoner’s dilemma

2 January 2026 at 17:30

In 2026, Medtronic plans to launch a new robot to compete with a legacy market leader. This new robot is reportedly cheaper both in startup and sustained costs. That’s a welcome direction for any new medical technology, but it ignores a problem that hospitals, especially rural ones, face relating to technology and physician training.

Sometimes, rational decisions made in isolation lead to irrational outcomes for everyone involved. This is the lesson of the prisoner’s dilemma, a classic game theory puzzle demonstrating how cooperation and self-interest often clash. In the puzzle, two prisoners are each offered a deal: Inform on the other and go free, or stay silent and face a lighter sentence together. Fearing betrayal, both inform and both lose.

Read the rest…

© PASCAL POCHARD-CASABIANCA/AFP via Getty Images

  • ✇STAT
  • STAT+: Who will pay for AI in health care? 3 trends to watch in 2026 Katie Palmer
    The health care industry is gearing up for a battle over whether and how clinical artificial intelligence should get paid for.  As of the end of September, the Food and Drug Administration has authorized 1,357 AI-enabled medical devices. But very few of those tools are actively paid for by insurers.  Some health policy experts and clinicians don’t see that as a problem. Continue to STAT+ to read the full story…
     

STAT+: Who will pay for AI in health care? 3 trends to watch in 2026

2 January 2026 at 17:30

The health care industry is gearing up for a battle over whether and how clinical artificial intelligence should get paid for. 

As of the end of September, the Food and Drug Administration has authorized 1,357 AI-enabled medical devices. But very few of those tools are actively paid for by insurers. 

Some health policy experts and clinicians don’t see that as a problem.

Continue to STAT+ to read the full story…

© Christine Kao/STAT

Autologous multiantigen-targeted T cell therapy for pancreatic cancer: a phase 1/2 trial

Nature Medicine, Published online: 02 January 2026; doi:10.1038/s41591-025-04043-5

Results of the phase 1/2 TACTOPS trial show that autologous T cell therapy targeting PRAME, SSX2, MAGEA4, Survivin and NY-ESO-1 in patients with pancreatic ductal adenocarcinoma is feasible and safe, and leads to encouraging clinical responses and evidence of antigen spreading in responders.

Quantifying the global eco-footprint of wearable healthcare electronics

Nature, Published online: 31 December 2025; doi:10.1038/s41586-025-09819-w

An integrated systems engineering framework based on life-cycle inventories is used to quantify the global eco-footprint of wearable healthcare electronics and identify effective mitigation strategies.

Artificial Intelligence Applications in the Diagnosis, Treatment, and Prognosis of Hepatocellular Carcinoma

Gut Liver. 2025 Dec 31. doi: 10.5009/gnl250268. Online ahead of print.

ABSTRACT

The global burden of hepatocellular carcinoma (HCC) has shifted from viral to nonviral etiologies. However, successful antiviral therapy does not fully eliminate the risk of HCC, underscoring the demand for more effective surveillance strategies. Current screening methods, such as semiannual ultrasonography and the measurement of α-fetoprotein levels, offer suboptimal sensitivity for early detection. A cost-effective, reliable surveillance approach remains an unmet need. The Barcelona Clinic Liver Cancer staging system provides a framework to guide HCC therapy; yet, some gray zone exists, particularly for patients with intermediate-stage disease. Although tyrosine kinase inhibitors and immunotherapies have transformed the therapeutic landscape, their efficacies vary among patients, highlighting the necessity for personalized treatment strategies. In response to these challenges, artificial intelligence (AI) approaches have emerged as transformative tools in healthcare. By processing complex, nonlinear relationships and uncovering hidden patterns in clinical data, AI methods offer capabilities beyond those of traditional statistical methods. Furthermore, AI-driven multi-omics analysis holds promise for identifying novel biomarkers, thereby advancing precision medicine for HCC patients. This review introduces the potential of AI applications in enhancing the diagnosis, treatment, and prognosis of HCC.

PMID:41472345 | DOI:10.5009/gnl250268

Multi-Omics and Functional Analysis of BFSP1 as a Prognostic and Therapeutic Target in Liver Hepatocellular Carcinoma

Medicina (Kaunas). 2025 Dec 11;61(12):2196. doi: 10.3390/medicina61122196.

ABSTRACT

Background and Objectives: Although beaded filament structural protein 1 (BFSP1) may be involved in oncogenic mechanisms, its clinical relevance and functional role in liver hepatocellular carcinoma (LIHC) remain unclear. This study examined the prognostic significance, regulatory mechanisms, and potential therapeutic implications of BFSP1 in LIHC. Materials and Methods: Comprehensive bioinformatics analysis was performed across multiple platforms using datasets derived from The Cancer Genome Atlas. Differential gene expression, DNA methylation, copy number variation, immune cell infiltration, drug sensitivity, and co-expression networks were systematically examined. Functional enrichment analyses of protein-protein and gene-gene interaction networks were conducted using STRING and GeneMANIA. Additionally, short interfering RNA-mediated knockdown and wound-healing assays were performed in HepG2 cells to evaluate BFSP1 function in vitro. Results: The results showed that BFSP1 mRNA expression was significantly upregulated in tissues from LIHC patients. Elevated BFSP1 levels were associated with poorer prognostic patterns, which were further supported by detailed clinicopathological subgroup analyses. Furthermore, BFSP1 expression was correlated with promoter hypomethylation and associated with patterns of tumor-infiltrating immune cells, including specific immune cell subtypes such as M1 and M2 macrophages. Integrative analyses revealed strong associations between BFSP1 and drug sensitivity, as well as a regulatory network encompassing genes involved in the cell cycle, DNA repair, and metabolic processes. Functional knockdown of BFSP1 significantly reduced HepG2 cell migration in vitro, as assessed by wound healing assay, with decreased wound closure at 24 h (11.0% vs. 16.5%) and 48 h (7.4% vs. 12.5%) compared with the control (p < 0.05, n = 6 biological replicates). Conclusions: In conclusion, these findings suggest that BFSP1 functions as a multifaceted prognostic biomarker and a potential therapeutic target for LIHC.

PMID:41470198 | PMC:PMC12735119 | DOI:10.3390/medicina61122196

❌