181 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 14 individuals with severe developmental and epileptic encephalopathy caused by rare biallelic *RNU2-2* variants, characterizing a distinct clinical phenotype and demonstrating that aberrant splicing events are detectable via RNA sequencing in fibroblast but not blood tissues.
This paper introduces COXMM, a novel Cox proportional hazard mixed model that accurately estimates time-to-event heritability from longitudinal biobank data, revealing that disease progression often has lower heritability than initial incidence and providing a robust framework for improving polygenic risk score predictions in survival analyses.
By applying dominant and recessive genetic models to a genome-wide association study of over 30,000 individuals, researchers identified five novel risk signals for Idiopathic Pulmonary Fibrosis, including variants in the PMF1 and EPN3 genes, thereby uncovering new mechanistic insights into the disease's pathogenesis.
This study utilizes genome-wide association studies across 12 organ systems to identify shared genetic mechanisms and novel variants underlying fibrosis, revealing common biological pathways that could inform the development of new therapies.
This study analyzing 490,640 UK Biobank genomes found that severe combined immunodeficiency (SCID) variants exhibit high penetrance and a low prevalence of biallelic pathogenic variants, supporting the inclusion of SCID in genomic newborn screening while highlighting the need for careful reporting of hypomorphic variants.
This study demonstrates that pervasive non-causal "tagging" effects, driven by shared transcription factor binding sites and peak co-accessibility, confound enhancer-gene linking in single-cell multiome data, necessitating the use of fine-mapping methods like SuSiE to distinguish true causal regulatory relationships from spurious correlations.
This study presents the first genome-wide association analysis of lateral epicondylopathy, identifying two significant risk loci that implicate SIBLING genes in extracellular matrix remodelling and challenge previously reported collagen gene associations.
The authors developed and validated "Phylo-Plex," a low-cost, high-resolution amplicon sequencing platform that enables deployable genomic epidemiology for tracking pathogen lineages in low-resource settings by maximizing phylogenetic information with minimal genomic regions.
This study utilizes postmortem DNA methylation profiling of cardiac ventricles to identify specific methylation signatures near the PITX2 and PANCR genes associated with left ventricle size, thereby highlighting the critical importance of standardized multi-region tissue sampling in forensic cardiac investigations.
This study presents the first cell type-resolved map of DNA methylation in the prefrontal cortex of Parkinson's disease patients, revealing that the disease is characterized by neuronal-specific hypermethylation at seven distinct loci, including genes such as ROBO4 and PDE4B, while showing no significant methylation changes in glial cells.