📄 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

A Genome-wide Association Study of Alzheimer's Disease and Dementia in a Large Multi-ancestry Military Cohort Identifies Many New Dementia-Associated Loci

This study leverages a large, multi-ancestry cohort of US Veterans from the Million Veterans Program in a meta-analysis with existing data to identify 26 novel genome-wide significant loci associated with Alzheimer's disease and dementia, thereby expanding genetic discovery beyond the APOE region and enhancing representation of underrepresented ancestry groups.

Sherva, R., Bayly, H., Zhang, R., Harrington, K., Mez, J., Miller, M. W., Tsuang, D., Wolf, E., Zeng, Q., Le Guen, Y., T (…)2026-05-07
📄 genetic and genomic medicine

Hypertrophic cardiomyopathy: a genome wide association meta-analysis and polygenic risk score

This study identifies novel genetic loci associated with hypertrophic cardiomyopathy (HCM) and demonstrates that a newly developed polygenic risk score effectively predicts HCM diagnosis, imaging phenotypes, and adverse clinical outcomes, particularly in sarcomere-negative cases.

Lopes, L. R., Aung, N., van Duijvenboden, S., Nicholls, H., Burns, R., Jager, J., Lorenzini, M., Akhtar, M. M., Protonot (…)2026-05-07
📄 genetic and genomic medicine

Genetics of the Leading Causes of Death in Human Aging

This study analyzes 307 age-related genes to reveal that, with the exception of tuberculosis and COVID-19, these genetic factors significantly influence the leading global causes of death through a core set of 15 pleiotropic hub genes involved in critical biological pathways such as nitric oxide regulation and PI3K signaling.

Martignoni, A., Cai, W. C., Calderon, V., Aguinaldo, C. C., Park, K., Murakami, S.2026-05-06
📄 genetic and genomic medicine

Cell-type-resolved genetic regulatory variation shapes inflammatory bowel disease risk

By mapping cis-eQTLs across 2.2 million single cells from blood and intestinal biopsies, this study demonstrates that cell-type-resolved genetic regulatory variation provides a more precise mechanistic link to inflammatory bowel disease risk than tissue-level analysis, identifying specific effector genes and cell types involved in immune dysfunction and barrier breakdown.

Alegbe, T., Harris, B. T., Fachal, L., Ramirez Navarro, L., Tutert, M., Krzak, M., Ghouraba, M., Strickland, M., Ozols (…)2026-05-05
📄 genetic and genomic medicine

Electron microscopy visualization of cell-free mitochondrial DNA-containing extracellular vesicles in human plasma, serum, and saliva

Using electron microscopy to analyze human biofluids, this study demonstrates that cell-free mitochondrial DNA is often associated with double-membrane, mitochondria-like particles rather than existing as naked DNA, suggesting a potential role in intercellular mitochondrial transfer or signaling.

Volos, A., Franklin, S. G., Michelson, J., Rausser, S., Brestoff, J. R., Picard, M.2026-04-28
📄 genetic and genomic medicine

Cross-ancestry evaluation of idiopathic pulmonary fibrosis genetic risk variants

This study evaluates the transferability of 35 known idiopathic pulmonary fibrosis genetic risk variants in non-European populations, finding that while most show limited cross-ancestry consistency, the MUC5B variant remains a dominant signal, underscoring the need for larger, diverse studies to improve genetic discovery and translation.

Nabunje, R., Guillen-Guio, B., Hernandez-Beeftink, T., Joof, E., Leavy, O. C., International IPF Genetics Consortium,, M (…)2026-04-25
📄 genetic and genomic medicine

From GWAS to drug: A framework for drug candidate prioritisation using a gene expression signature matching approach

This paper systematically benchmarks key parameters of the transcriptome-wide association study (TWAS) signature-matching approach using three proof-of-concept traits and proposes a best-practice framework to optimize the prioritization of drug candidates supported by human genetic evidence.

Chauquet, S., Jiang, J.-C., Barker, L. F., Hunter, Z. L., Singh, G., Wray, N. R., McRae, A. F., Shah, S.2026-04-24
📄 genetic and genomic medicine

Meta-Analysis of Rare Cancers Leveraging Clinically Ascertained Cohorts Reveals Novel Germline Susceptibility Loci

By integrating large-scale clinically ascertained cohorts with population biobanks, this meta-analysis of over 480,000 individuals identified nine novel germline susceptibility loci across eight rare cancer types, revealing critical insights into host-viral interactions, somatic-germline interplay, and hematopoietic dysregulation that advance the understanding of inherited susceptibility in rare malignancies.

Carver, S., Perea-Chamblee, T., Taraszka, K., Moon, I., Yu, X., Ding, Y., Carrot-Zhang, J., Gusev, A.2026-04-22