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.
The paper cannot be summarized because it has been withdrawn due to the presence of confidential information.
By integrating single-cell multi-omics with genetic analyses, this study reveals that Major Depressive Disorder susceptibility is specifically linked to natural killer (NK) cell activation and associated genes like CCL5, GZMA, and SYNE2, distinguishing its immune mechanism from the adaptive lymphocyte-driven pathology of psoriasis and suggesting NK-cell signaling as a novel target for immunomodulatory depression treatments.
This study reveals that incompletely penetrant, inherited protein-truncating variants contribute to developmental disorders in approximately 20% of affected individuals by causing partial, additive reductions in gene expression rather than complete loss of function.
This study utilizes DNA methylation profiling to redefine rhabdomyosarcoma into distinct, biologically and clinically homogeneous subgroups within both fusion-positive and fusion-negative categories, revealing novel entities such as the high-risk AFN group and further characterizing the heterogeneity of fusion-negative tumors.
This study demonstrates that observed associations between polygenic risk scores and treatment response in lipid-lowering trials may be artifacts of collider bias induced by eligibility criteria rather than true biological interactions, highlighting a critical vulnerability in precision medicine trial designs.
This study identifies biallelic UQCC1 variants as a novel cause of early-onset mitochondrial disease by demonstrating that these mutations impair the assembly and function of mitochondrial complex III through disrupted protein stability and supercomplex formation.
By constructing a comprehensive single-cell gene regulatory map of the human fetal heart across 90 cell types, this study reveals that valvular interstitial cells play a central role in congenital heart disease by mediating the effects of both coding and noncoding genetic risk variants, thereby expanding the understanding of CHD beyond cardiomyocytes and providing a foundational resource for interpreting genetic variants and developing targeted therapies.
This Mendelian randomisation study demonstrates that short telomeres, but not accelerated epigenetic or proteomic aging, causally increase the risk of fibrotic lung disease (particularly idiopathic pulmonary fibrosis) through a mechanism independent of telomerase genes, establishing telomere length as a distinct and tractable therapeutic target.
This study identifies a reproducible X-chromosome hypomethylation signature in females with multiple sclerosis that is enriched in genes subject to X-chromosome inactivation and mapped to immune-related processes, suggesting a potential epigenetic mechanism for the disease's female predominance.
This study developed and validated cellular swab reference materials that, when integrated into an international external quality assessment program, successfully enable scalable, high-quality pharmacogenomic point-of-care testing in decentralized clinical settings.