180 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 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 -globin genes independently of BCL11A, offering new therapeutic insights for hemoglobinopathies.
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.
This study introduces CASTIE, a scalable framework for mapping context-dependent single-cell eQTLs that uncovers thousands of disease-relevant regulatory variants missed by conventional static models by accounting for genotype-by-environment interactions across diverse cellular states.
This biobank study utilized genome-wide association analyses across three cohorts to identify seven replicated genomic risk loci for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, including variants near genes such as CLYBL, BICD1, GRIN2A, CSMD1, and RORA, though no single variant reached significance across all three studies.
This study supports the Two-Hit Hypothesis for post-traumatic epilepsy by demonstrating its polygenic nature through whole-exome sequencing and establishing a highly accurate predictive framework for estimating individual genetic risk.
In a large prospective cohort of U.S. adults, adverse multi-trait polygenic profiles for dementia were significantly associated with an increased risk of dementia, disability, or death, with the strongest effect observed for dementia and further amplified in individuals carrying the APOE ε4 allele.
This study demonstrates that long-read genome sequencing provides a 4.7% incremental diagnostic yield for rare Mendelian diseases in patients previously undiagnosed by short-read sequencing, primarily by detecting variants in dark genomic regions, structural variations, repeat expansions, and de novo mutations that are inaccessible to short-read methods.
X-Admix is a novel, interpretable multimodal framework that utilizes cross-attention mechanisms to jointly integrate genotype, local ancestry, and social drivers of health, successfully predicting inhaled-corticosteroid response in admixed African American populations while revealing distinct candidate gene-environment interactions that traditional methods miss.
This paper introduces Gene Swap Randomization (GSR), a framework that corrects for bias caused by pathway overlap in GWAS gene set enrichment analyses, thereby significantly improving the accuracy of identifying biologically relevant pathways and distinguishing true pathway-specific signals from artifacts of shared gene membership.
This study utilized plasma metabolomics to identify significant metabolic differences, particularly in sphingolipid and beta-oxidation pathways, between treated MPS IH and MPS IA patients, revealing potential biomarkers and adjunctive therapeutic targets to address residual disease progression in MPS IH.