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.
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.
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.
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.
This study demonstrates that a gene-agnostic method quantifying genetic similarity among 178 diseases can successfully predict novel therapeutic uses and adverse effects for 1,711 drugs, offering a new pathway for drug discovery that bypasses the need for identifying specific causal genes or targets.
This largest multi-ancestry breast cancer study reveals that the disease shares a largely common polygenic architecture and convergent cellular signatures across diverse ancestral groups, despite variations in specific genetic correlations and effect sizes.
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.
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.
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.
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.
This study demonstrates that a novel dynamic cardiac shape atlas derived from UK Biobank CMR imaging captures unique functional remodeling patterns and genetic loci not reflected in standard measures, thereby significantly improving the prediction of incident cardiometabolic diseases and offering new insights into the genetic architecture of cardiac function.