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.
By partnering with 18 patient organizations to utilize the publicly available GeniE tool for analyzing gnomAD data, this study demonstrates how democratizing genetic prevalence estimates for 22 rare conditions empowers patient advocacy and highlights the dynamic nature of these metrics as genomic databases evolve.
This multi-institute prospective study demonstrates that a novel fragmentomic metric called the regional motif diversity score (rMDS), derived from cell-free DNA end motifs, robustly distinguishes immunotherapy responders from non-responders in head and neck cancer and predicts improved disease-free survival, outperforming established biomarkers like PD-L1 expression and tumor fraction.
This study identifies FRMPD4 as a causal gene for X-linked non-syndromic sensorineural hearing loss, expanding its known phenotypic spectrum beyond intellectual disability and epilepsy through genetic analysis of affected families and functional validation across Drosophila, zebrafish, and mouse models.
This study demonstrates through genomic structural equation modeling that genetic factors influencing branched-chain amino acid (BCAA) metabolism independently contribute to the risk of type 2 diabetes and coronary artery disease, distinct from traditional risk factors like obesity and dyslipidemia.
This systematic review and meta-analysis of 15 studies reveals that while large language models augmented with external knowledge achieve higher diagnostic accuracy for rare diseases than standalone models, their performance is highly variable and dependent on benchmark disease composition, with all current evidence limited by high risk of bias and a lack of prospective clinical validation.
The paper introduces StratGWAS, a scalable framework that improves the power and specificity of genome-wide association studies for heterogeneous diseases by leveraging secondary clinical features to stratify cases and upweight those with higher inferred genetic liability, thereby identifying more significant genetic loci than standard methods.
This paper identifies a novel therapeutic strategy that leverages common heterozygous genetic variants to enable allele-specific, mutation-agnostic silencing of over 500 dominant and dispensable disease alleles across diverse physiological systems, thereby dramatically expanding the pool of treatable patients compared to mutation-specific approaches.
This study demonstrates that lung adenocarcinoma histological subtypes defined by WHO classification exhibit distinct immune cell and transcriptomic profiles that correlate with survival and immunotherapy responsiveness, offering a more prognostically valuable framework than mutation analysis alone.
This study demonstrates that a genotype-based severity scoring system, which classifies WFS1 variants by type and location, effectively correlates with the onset age of cardinal Wolfram syndrome symptoms, particularly diabetes mellitus and optic atrophy, thereby offering valuable insights for predicting disease progression and guiding clinical care.
This study presents a comprehensive resource of whole-genome DNA methylation patterns in 404 high-grade serous ovarian cancer samples, revealing that the regulatory methylome is established early and remains stable during chemotherapy, with widespread promoter hypermethylation in treatment-resistant ascites cells driving therapy failure and offering detectable epigenetic signatures for liquid biopsy monitoring.