📄 Category

genetic and genomic medicine

208 papers

Genetic and genomic medicine explores how our DNA shapes health, disease risk, and responses to treatment. This rapidly evolving field moves beyond simple family trees to examine the complex molecular instructions that guide every cell in the human body. By decoding these biological blueprints, researchers aim to unlock personalized therapies that target the root causes of illness rather than just treating symptoms.

On Gist.Science, we bring the latest discoveries directly from medRxiv, the leading preprint server for health sciences. We process every new submission in this category as it arrives, transforming dense academic findings into both detailed technical breakdowns and clear, plain-language summaries. This ensures that groundbreaking research is accessible to clinicians, scientists, and curious readers alike without the usual barriers of jargon.

Below are the most recent papers in genetic and genomic medicine, organized for your review.

📄 genetic and genomic medicine

Methylation-driven Cancer Genes and Methylation Profiling in Glioma: A Comparative Study between East Asian and non-Hispanic White Populations

This study compares DNA methylation profiles between East Asian and non-Hispanic White glioma cohorts, revealing distinct methylation-driven genes, a reclassification of a subset of glioblastomas as high-grade astrocytomas in the East Asian group, and significantly better survival outcomes for East Asian patients, highlighting the importance of ethnic diversity in understanding glioma epigenetics and treatment.

Newman, L., Dunne, N., Cheng, V. W., Sharma-Oates, A.2026-09-25
📄 genetic and genomic medicine

Maternal immune gene expression trajectories and dynamic genetic regulation throughout pregnancy

This study longitudinally profiles maternal immune gene expression and dynamic genetic regulation across pregnancy in 1,305 women, revealing that the most profound immune remodeling occurs in early gestation while genetic regulatory effects increasingly diverge from the non-pregnant state, providing a critical reference for understanding maternal adaptation and the genetic basis of pregnancy complications.

Hoffman, S., Burnham, K. L., Cook, E., Cohen, C. E., Sovio, U., Charnock-Jones, D. S., Smith, G. C. S., Davenport, E. E.2026-09-25
📄 genetic and genomic medicine

Direct Pan-Cancer Multi-Omic Analysis of Radiotherapy Response Reveals Coding and Regulatory Genomic Variation, and Extracellular Adaptive Programs Underlying Radioresistance

This pan-cancer study of 1,445 radiotherapy-treated patients integrates multi-omic and clinical data to reveal that radioresistance is driven by complementary intracellular metabolic adaptations and extracellular signaling programs, identifying novel coding variants and differentially expressed genes as potential biomarkers for treatment response.

Raman, K., Yadla, S. C., Ravi, P., Kamaraj, V.2026-09-25
📄 genetic and genomic medicine

Association of polygenic risk scores with low-density lipoprotein cholesterol levels and control: findings from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

This study evaluates twenty polygenic risk scores in the diverse Hispanic Community Health Study/Study of Latinos cohort, finding that a score prioritizing functional annotations (PolyFun-pred) best predicts LDL levels and statin treatment response across subgroups, thereby highlighting the need for tailored precision medicine approaches to address genetic heterogeneity and prevent health disparities in Hispanic/Latino populations.

Hutten, C. G., Sofer, T., Spitzer, B., Bryan, M. S., Sun, J., Persky, V. W., Daviglus, M. L., Argos, M.2026-09-23
📄 genetic and genomic medicine

Genomic Landscape of Early-Onset and Familial Latin American Parkinson's Patients

This study utilized whole-genome sequencing on 263 early-onset and familial Parkinson's disease patients within the Latin American Research Consortium on the Genetics of PD (LARGE-PD) to identify previously underrepresented pathogenic variants in PD-related and Gaucher's disease genes, thereby expanding the known genetic landscape of the disease in Latin American populations.

Waldo, E., Chaparro-Solano, H. M., Isayan, M., Leal, T. P., Duarte-Zambrano, F., Inca-Martinez, M., Ramchandra, J., Rive (…)2026-09-22
📄 genetic and genomic medicine

A Genome-wide Genetic Data Resource for the 45 and Up Study

This study successfully generated and validated high-quality low-coverage whole-genome sequencing data for 6,827 participants of the Australian 45 and Up Study, creating a new resource that integrates ~79 million genetic variants with extensive linked health records to enable large-scale investigations into disease aetiology and precision health.

Mesrian Tanha, H., Goldsbury, D., Parker, R., Garden, N., de Guzman, E., Dawson, G., Bleicher, K., Cowle, A., McNamara (…)2026-09-22
📄 genetic and genomic medicine

CAST as a Tumor-Specific Suppressor in Colorectal Cancer: Discovery Through Integrative Analysis of Unannotated Isoforms, Proteomics, and Epigenetic Regulation

Through an integrative analysis of single-cell long-read sequencing, proteomics, and epigenetic data, this study identifies CAST as a tumor-specific suppressor in colorectal cancer that is reactivated via promoter demethylation and miRNA regulation, establishing a generalizable framework for discovering therapeutic targets from unannotated isoforms.

Ebadi, A., Hashemi, M.2026-09-20
📄 genetic and genomic medicine

Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation

This study identifies a previously uncharacterized BACH2-NRF2 regulatory axis, where the high-fetal hemoglobin-associated variant rs1010474-C reduces BACH2 expression to relieve repression and enhance NRF2-mediated activation of γ\gamma-globin genes independently of BCL11A, offering new therapeutic insights for hemoglobinopathies.

Guo, C.-J., Arora, U. P., Xu, W., Cheng, X., Cato, L. D., Li, R., Lu, H. Y., Lee, A. J., Yu, F., Agarwal, G., Lyu, P., Y (…)2026-09-15
📄 genetic and genomic medicine

Lysosomal polygenic risk score in Parkinson's disease across populations.

This study demonstrates that a lysosomal polygenic risk score effectively predicts Parkinson's disease risk and correlates with clinical severity in European populations, though its performance is significantly reduced in other ancestries, highlighting the urgent need for improved genetic models across diverse groups.

Sun, W., Brockmann, K., Wurster, I., Kemmner, R., Roeben, B., Skaiene, R., Lerche, S., Schulte, C., Gasser, T., Tan, M. (…)2026-09-15