📄 Category

genetic and genomic medicine

147 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

Multi-Ancestry Survival GWAS of Substance Use Initiation in the ABCD Study

This study leverages longitudinal survival analysis within the multi-ancestry ABCD Study to identify genetic variants associated with the timing of substance use initiation, demonstrating that incorporating developmental timing and diverse ancestry groups reveals significant genetic signals, including a genome-wide significant locus for nicotine, that are often missed by traditional binary outcome designs.

Wei, M., Peng, Q.2026-04-11
📄 genetic and genomic medicine

Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders

By analyzing 173 multiplex Portuguese families, this study reveals the shared genetic architecture of schizophrenia, mood disorders, and autism, identifying a rare CHD2 loss-of-function mutation that demonstrates how single neurodevelopmental gene disruptions can cross diagnostic boundaries to cause diverse serious mental illnesses.

Pato, C. N., Pato, M. T., Mulle, J., Hart, R. P., Pang, Z., Knowles, J. A., Singh, T., Maddhesiya, P., Carvalho, C., Mer (…)2026-04-07
📄 genetic and genomic medicine

Ancestry-stratified variant classification in monogenic diabetes genes: annotation coverage and differential curation burden

This study reveals that while non-European patients with monogenic diabetes face a significant 70% annotation gap in ClinVar and gnomAD, the primary equity issue is not a simple excess of variants of uncertain significance but rather a distinct curation deficit and reclassification lag compared to European populations, highlighting the urgent need for ancestry-stratified evaluation of variant curation standards.

Dario, P.2026-04-07
📄 genetic and genomic medicine

Religious beliefs and practices, political orientation, and distrust in healthcare predict attitudes toward mRNA vaccines in the United States

A secondary analysis of a large U.S. survey reveals that attitudes toward mRNA vaccines are significantly shaped by religious affiliation, political orientation, and healthcare distrust, with Evangelical Protestants and those holding conservative or fundamentalist views showing greater skepticism compared to atheists and liberals.

Solomon, E. D., Chin, E. G., Baldwin, K., Baker, L. L., DuBois, J. M.2026-04-07
📄 genetic and genomic medicine

PAVS: A Standardized Database of Phenotype-Associated Variants from Saudi Arabian Rare Disease Patients

The paper introduces PAVS, a standardized, publicly accessible database integrating thousands of Saudi Arabian and global clinical cases with phenotype-genotype data to address the lack of population-specific resources and demonstrate high utility in prioritizing disease-causing genes for under-represented populations.

Abdelhakim, M., Althagafi, A., SCHOFIELD, P., Hoehndorf, R.2026-04-06
📄 genetic and genomic medicine

Genomic ascertainment of PALB2-related cancer predisposition

This study demonstrates that genomic ascertainment of heterozygous *PALB2* pathogenic variants in large population cohorts reveals significantly elevated risks for breast and pancreatic cancers, as well as increased all-cause mortality, with risks further modified by family history but generally lower than estimates derived from familial ascertainment.

Stewart, D., Kim, J., Haley, J. S., Li, J., Sargen, M. R., Hong, H. G., Tischkowitz, M., McReynolds, L. J., Carey, D. J.2026-04-04
📄 genetic and genomic medicine

Functionality-Informed Fine-Mapping Dissects Common Variant Contributions to Coronary Artery Disease and Identifies Causal Variants and Pathways

This study utilizes functionality-informed fine-mapping on over one million individuals to dissect the highly polygenic architecture of coronary artery disease, identifying 36 high-confidence causal variants and three key biological pathways—lipoprotein metabolism, vascular homeostasis, and inflammation—that drive disease risk.

Jacobsen, J. T., Moller, P. L., Rohde, P. D.2026-04-02
📄 genetic and genomic medicine

Sex-specific dissection of adiposity genetics reveals distinct pathways to endometrial cancer risk

By analyzing sex-stratified adiposity genetics in 2 million individuals, this study reveals that female-specific genetic factors drive endometrial cancer risk through distinct hormone-responsive and insulin-leptin signaling pathways, identifying 26 shared loci and demonstrating that only a fraction of the cancer's genetic variance is directly mediated by adiposity.

Bouttle, K., Glubb, D. M., Thorp, J., Ingold, N., O'Mara, T. A.2026-03-31
📄 genetic and genomic medicine

Assessing the clinical significance of a novel rare variant in Loeys-Dietz Syndrome by combining AI-driven modelling and cell biology

This study confirms the pathogenicity of a novel TGFBR2 E431K variant in a patient with Loeys-Dietz syndrome by integrating AI-driven structural modelling with cell-based assays to demonstrate that the mutation disrupts protein stability and aberrantly alters TGF-β signalling.

Boukrout, N., Delage, C., Comptdaer, T., Arondal, W., Jemel, A., Azabou, N., Bousnina, M., Mallouki, M., Sabaouni, N., A (…)2026-03-31
📄 genetic and genomic medicine

The Power of Partnership: Democratizing Genetic Prevalence to Empower Patient Advocacy

By partnering with 18 patient organizations to utilize the publicly available GeniE tool for analyzing gnomAD data, this study demonstrates how democratizing genetic prevalence estimates for 22 rare conditions empowers patient advocacy and highlights the dynamic nature of these metrics as genomic databases evolve.

Baxter, S. M., Singer-Berk, M., Glaze, C., Russell, K., Grant, R. H., Groopman, E., Lee, J., Watts, N., Wood, J. C., Wil (…)2026-03-31