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Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of cortical and spinal motor neurons. Mendelian germline mutations often cause familial ALS (fALS) but only approximately 10% of sporadic ALS cases (sALS). [...]

The developmental context in which genetic alterations occur is crucial to understand disease progression. In pediatric cancer, modeling tumor formation in the right cell type is necessary to faithfully recapitulate the unique nature of pediatric tumors. [...]

Although most studies of anticancer T-cell immunity focus on αβ T cells, γδ T cells are attracting increasing attention due to their involvement in antitumor immune responses in various cancer entities, including melanoma. While immune checkpoint blockade (ICB) using the antagonistic programmed cell death protein 1 (PD-1) antibodies nivolumab and pembrolizumab significantly improved the survival of patients with melanoma with distant metastasis, prognosis remains poor. [...]

Family history of colorectal cancer (CRC) and multiple primary CRCs in a single person may indicate inherited CRC predisposition.In the present study, we performed whole exome/genome sequencing on germline DNA from at least two CRC cases in 19 families and from family members with a double primary CRC from seven additional families. We used a set of in silico predictions in combination with a STRING protein-protein interaction and pathway analysis to identify the most likely variants predisposing to CRC.We identified Cell cycle/DNA repair and TGFβ signaling/Focal adhesion/Extracellular matrix organization pathways as highly significant protein-protein interaction networks. [...]

To evaluate whether integrating proteomics, metabolomics, and a cardiovascular disease specific polygenic risk score (CVD-PRS) in the SCORE2-Diabetes model improves sex-specific 10-year prediction of major adverse cardiovascular events (MACE) in individuals with type 2 diabetes (T2D).Genome-wide association study (GWAS), plasma proteomics (with the Olink Explore 3072 platform), and metabolomics (with nuclear magnetic resonance spectroscopy by Nightingale Health) data were measured in the UK Biobank. A novel sex-specific protein algorithm was developed using bootstrap-LASSO (Least absolute shrinkage and selection operator) regression. [...]

Cure rates for childhood malignancies using established therapy protocols have increased to an average of 80% but have reached a plateau. Moreover, survival rates are particularly low for some pediatric tumors-such as high-risk group 3 medulloblastomas, osteosarcomas, Ewing sarcomas, high-risk neuroblastomas, and high-grade gliomas-and dismal for patients with relapsed malignancies. [...]

Progression Free Survival Ratio (PFSratio), as defined as the ratio between PFS on investigational treatment (PFS2) and PFS on the last prior therapy (PFS1), is a popular endpoint in precision oncology (PO) studies. In this work, five methodologies for PFSratio-based trial analysis (count-based, Kaplan Meier, Kernel-based Kaplan Meier, parametric and midrank) and two for trial design (GBVE and Weibull) are benchmarked. [...]

The preparation of custom-made media offers precise control over nutrient composition, enabling detailed studies of cellular metabolism. We demonstrate how self-made media formulations enable diverse assay designs and readouts to assess cancer metabolism. [...]