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Human embryo research: how to move towards a 28-day limit
Nature, Published online: 01 July 2025; doi:10.1038/d41586-025-02016-9
The decades-old limit on how long human embryos can be grown in culture is under debate. A new road map outlines how to extend the length of culture responsibly.Chime almost died in 2016, turned down by 100 VCs — today it IPO’d at $14.5B
Biomarkers in adjuvant and neoadjuvant treatment of melanoma
Dermatologie (Heidelb). 2025 Jun;76(6):361-364. doi: 10.1007/s00105-025-05506-z. Epub 2025 May 7.
ABSTRACT
BACKGROUND: Personalized treatment of melanoma is becoming increasingly more important. Biomarkers offer the possibility of controlling treatment more precisely and reducing side effects.
OBJECTIVE: The aim of this text is to provide an overview of current tissue-based, blood-based and radiological biomarkers and their clinical application in melanomas.
MATERIAL AND METHODS: A literature research and analysis of current studies on biomarkers in adjuvant and neoadjuvant treatment of melanomas were carried out and relevant congress contributions were additionally included.
RESULTS: Tissue-based programmed cell death 1 ligand 1 (PD-L1) expression, interferon gamma (IFNγ) signature, gene expression profiles (GEP) and tumor mutational burden (TMB) are of prognostic and predictive relevance. Blood-based circulating tumor DNA (ctDNA) in the sense of a liquid biopsy should be emphasized as a personalized biomarker for longitudinal tracking during treatment or aftercare. Positron emission tomography computed tomography (PET-CT) and body composition enable an improved assessment of treatment efficiency. There are currently no data from prospective validation studies on these biomarkers; initial data from the NivoMela study are awaited.
CONCLUSION: The combination of tissue-based, blood-based and radiological biomarkers in terms of multiparametric approaches is promising but further prospective validation is needed for broad clinical use. These are currently not comprehensively implemented in the clinical routine in centers or in remuneration procedures.
PMID:40335648 | DOI:10.1007/s00105-025-05506-z
Cross-sectional and longitudinal association of seven DNAm-based predictors with metabolic syndrome and type 2 diabetes
Rare disease gene association discovery in the 100,000 Genomes Project
Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-w
A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.Heritable polygenic editing: the next frontier in genomic medicine?
Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08300-4
We discuss the potential consequences and ethical concerns of polygenic genome editing of human embryos to alter specific variants associated with polygenic diseases, highlighting the possibility of reducing disease susceptibility while exacerbating health inequalities.Functional evaluation and clinical classification of <i>BRCA2</i> variants
Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08388-8
Results from a comprehensive evaluation of the function of BRCA2 variants, particularly variants of uncertain significance, provide a useful resource to improve the clinical management of individuals who carry such genetic variants.Transposable element exonization generates a reservoir of evolving and functional protein isoforms
Label-free detection and profiling of individual solution-phase molecules
Nature, Published online: 08 May 2024; doi:10.1038/s41586-024-07370-8
Enhanced light–molecule interactions in high-finesse fibre-based Fabry–Pérot microcavities are used to detect and profile individual unlabelled solution-phase biomolecules, leading to potential applications in the life and chemical sciences.3D genomic mapping reveals multifocality of human pancreatic precancers
Nature, Published online: 01 May 2024; doi:10.1038/s41586-024-07359-3
Quantitative multimodal 3D reconstruction of human pancreatic tissue at single-cell resolution reveals a high burden of multifocal, genetically heterogeneous pancreatic intraepithelial neoplasias in the normal adult pancreas.Molecular profiling of a bladder cancer with very high tumour mutational burden
Cell Death Discovery, Published online: 30 April 2024; doi:10.1038/s41420-024-01883-x
Molecular profiling of a bladder cancer with very high tumour mutational burdenTumor-selective activity of RAS-GTP inhibition in pancreatic cancer
Nature, Published online: 08 April 2024; doi:10.1038/s41586-024-07379-z
Tumor-selective activity of RAS-GTP inhibition in pancreatic cancerProteome-scale discovery of protein degradation and stabilization effectors
Nature, Published online: 20 March 2024; doi:10.1038/s41586-024-07224-3
A synthetic proteome-scale strategy enables the identification of a diverse range of human proteins that can induce the degradation or stabilization of a target protein in a proximity-dependent way.Evolutionary trajectories of small cell lung cancer under therapy
Nature, Published online: 13 March 2024; doi:10.1038/s41586-024-07177-7
We uncover key processes of the genomic evolution of small cell lung cancer under therapy, identify the common ancestor as the source of clonal diversity at relapse and show central genomic patterns associated with drug response.Epigenome-wide association study of dietary fatty acid intake
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, Published online: 15 January 2024; doi:10.1038/s41586-024-07050-7
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomesWhy we need an academic career path that combines science and art
Nature, Published online: 08 December 2023; doi:10.1038/d41586-023-03394-8
Researchers who are as skilled in the studio as they are in the lab are forced to choose between disciplines.SPLASH: A statistical, reference-free genomic algorithm unifies biological discovery
The RORɣ/SREBP2 pathway is a master regulator of cholesterol metabolism and serves as potential therapeutic target in t(4;11) leukemia
Oncogene, Published online: 29 November 2023; doi:10.1038/s41388-023-02903-3
The RORɣ/SREBP2 pathway is a master regulator of cholesterol metabolism and serves as potential therapeutic target in t(4;11) leukemia