Foundation models in molecular biology, leveraging their success in NLP and image generation, are revolutionizing the understanding of multi-level molecular correlations by training on vast datasets encompassing RNA/DNA/protein sequences, single-cell transcriptomics, and spatial transcriptomics. These models decode intricate relationships (e.g., gene regulatory networks, protein interaction hubs) to predict functions, design therapeutics, and infer spatial tissue dynamics. Current frameworks include ESM-2 (protein structure-function prediction), scGPT (single-cell data integration), and DNABERT (genomic variant interpretation). Future directions emphasize multimodal integration (combining sequences, structures, and omics), interpretable attention mechanisms for biological insights, and scalable architectures for high-resolution spatial-temporal data. Addressing data heterogeneity and model generalizability will unlock precision biomedicine applications.

Objective

Deep venous thrombosis (DVT), a potentially life-threatening condition with a high clinical incidence, represents a significant healthcare burden in China. This study aims to investigate the prevalence of protein C (PROC) p.Lys193del mutation and promoter polymorphisms in patients with DVT in Shanghai, China.

Methods

A total of 180 patients diagnosed with DVT and 103 healthy controls underwent polymerase chain reaction amplification targeting two specific regions of the PROC gene for genetic analysis of the p.Lys193del mutation and promoter polymorphisms.

Results

The p.Lys193del mutation was significantly more prevalent in the DVT group, with 13 carriers identified (7.2​%, 13/180), compared to only one carrier in the control group (0.97%, 1/103; P<0.05). Genetic analysis of PROC promoter polymorphisms revealed distinct allele distribution patterns between the groups, with significantly different frequencies for the −1654 ​C,−1641 ​G and −1476 ​T alleles in DVT group versus control group (P<0.05). Corresponding genotype analysis showed significant intergroup differences in the three homozygous variants: −1654C/C, −1641G/G and −1476T/T, all of which exhibited significantly higher frequencies in the DVT group compared to control group (11.1% vs. 1.9%, P<0.01).

Conclusions

The PROC p.Lys193del mutation, an established genetic risk factor for DVT, accounts for about 7.2% of DVT cases. Furthermore, three promoter polymorphisms (−1654C/C, −1641G/G, −1476T/T) were present as homozygous genotypes in 6.1% (11/180) of DVT group, demonstrating statistically significant association with thrombotic risk compared to healthy controls (P<0.05). These findings position both the p.Lys193del mutation and the promoter haplotype variants as independent genetic risk factors for venous thromboembolism in the studied population.

Radiopharmaceuticals have become indispensable tools in precision medicine, revolutionizing diagnostic imaging and targeted therapeutic strategies. This manuscript provides an overview of advancements globally and in China, focusing on the classification and clinical applications of radiopharmaceuticals, particularly in oncology and neurology. Recent progress includes PET/SPECT diagnostic agents and therapeutic radionuclides that provide precise treatment while limiting damage to healthy tissues. Emerging technologies, such as artificial intelligence, novel ligands, advanced radionuclides, and combination therapies, present promising avenues to further enhance the efficacy and accessibility of the field. Despite these achievements, challenges remain in production, regulatory, and costs, underscoring the need for ongoing innovation and international collaboration to fully realize the potential of radiopharmaceuticals in personalized healthcare and optimize patient outcomes.

Drs. Young Kyu Hwang, Jihoon Kim, and Kyung-Ryul Oh at the Korea Research Institute of Chemical Technology (KRICT) reported a novel one-pot catalytic reaction using platinum (Pt)-based transfer hydrogenation to convert xylose—a sugar commonly derived from agricultural waste such as corn cobs and birch bark—into two value-added chemicals: xylonic acid (a pharmaceutical precursor) and xylitol (a bioplastic and sweetener feedstock).

A collaborative research team comprising Nam Dong Kim and Yongho Joo of the Center for Functional Composite Materials Research at the Jeonbuk Branch of the Korea Institute of Science and Technology (KIST, President Sang-Rok Oh) and Professor Jinwoo Lee of the Korea Advanced Institute of Science and Technology (KAIST, President Kwang-Hyung Lee) has announced the development of a polymer electrolyte with dramatically improved ionic conductivity usingonly a small amount of additives.

Objective

Colorectal cancer (CRC), a common malignant tumor of the digestive tract, poses a worldwide threat to human health. Methods: This study conducted a narrative literature review to assess and provide perspectives on the evolving understanding of dietary nutrients and one-carbon metabolism in the context of colorectal cancer.

Results

Certain nutrients can serve as precursor (methionine and serine) or cofactor (B vitamins) for one-carbon (1C) units, participating in 1C metabolism through a network of interrelated biochemical pathways that involve the transfer of 1C units. 1C metabolism, in turn, affects tumor cell fate through several mechanisms such as nucleotide synthesis, epigenetic modifications, redox homeostasis, and the interaction with gut microbiota, all of which are implicated in the pathogenesis and progression of CRC.

Conclusions

A deeper understanding of the intricate relationships between the three offers new insights into the mechanism of 1C metabolism in the development of CRC, the role of diet in modulating one-carbon metabolism and potential therapeutic interventions for cancer.

Parkinson’s disease (PD) is a complex genetic neurodegenerative disorder. Epidemiology genetic discoveries have increased our understanding of the molecular contributors to Parkinson’s pathophysiology, especially when associated with the advent of genome-wide association studies (GWAS) technologies in the discovery of the risk linked to common germline genetic variants. The biggest limitation of those studies on genetic susceptibility to PD is the lack of information describing the impact of individuals’ ancestry on risk associations, especially in non-European populations. Current genetic data are mainly based on individuals of European origin, particularly those included in the UK biobank project. The effects of these ethical discrepancies can directly impact the discovery of risk variants associated with PD susceptibility and clinical management of PD patients in admixture populations, for example. Thus, we performed a PROSPERO-registered systematic review to elucidate the current state of the art about the role of common genetic variants based on GWAS studies in advancing precision medicine for PD susceptibility and pathobiology in multiethnic and non-European populations. Also, we discuss whether there are similarities or discrepancies of these data in relation to genomic data obtained in studies with PD patients of European origin.