📄 Category

genetic and genomic medicine

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.

📄 genetic and genomic medicine

Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts

This study demonstrates that missense variants can significantly disrupt RNA splicing to cause protein loss-of-function, revealing that a substantial proportion of these clinically relevant "missense spliceogenic variants" are missed by traditional protein-centric prediction tools and highlighting the necessity of integrating RNA-centric analysis into variant interpretation pipelines.

Rintari, M. R., Chundru, V. K., Oquendo, C. J., Leslie, J., Pagnamenta, A. T., Baralle, D., Wright, C. F.2026-10-13
📄 genetic and genomic medicine

Sex-aware Cross-tissue Regulatory Transformer Identified Sexually Dimorphic Alzheimer's Disease Risk Loci and Causal Cellular Circuit

This study introduces STAGE-AD, a sex-aware Transformer model that identifies sexually dimorphic genetic risk loci and causal cellular circuits for Alzheimer's disease, revealing distinct glial and endothelial contributions in females and males respectively to enable more targeted treatment strategies.

Cheng, Z., Judaprawira, S., Perez, J., Goldstein, A.2026-10-09
📄 genetic and genomic medicine

GALC variants affect Glucocerebrosidase to Galactosylceramidase activity ratio

This study demonstrates that genetic variants at the GALC locus significantly influence the activity ratio between glucocerebrosidase and galactosylceramidase, suggesting that Parkinson's disease risk associated with lysosomal glycosphingolipid genes may stem from altered coordination between pathway enzymes rather than isolated single-enzyme effects.

Rajabi Vajargah, A., Senkevich, K., Zhang, Z., Liu, L., Amiri, S., Ghamgosar Shahkhali, M., Teferra, M., Lacarriere-Keit (…)2026-10-07
📄 genetic and genomic medicine

Recessive loss-of-function and dominant gain-of-function variants in FBXO31 are associated with distinct neurodevelopmental disorders

This study establishes that *FBXO31* variants cause distinct neurodevelopmental disorders through an allelic series where a specific dominant gain-of-function mutation leads to spastic cerebral palsy, while recessive biallelic loss-of-function variants, such as a homozygous deletion identified in a consanguineous family, result in intellectual disability and developmental delay.

Boehnlein, J., Weiss, B., Hirsch, S., Maass, J. G., Obeid, K., Hinderhofer, K., Schroeder, S., Saemann, B., Hempel, M. (…)2026-09-30
📄 genetic and genomic medicine

GC801-enabled AAV gene therapy in a neonate with Pompe disease

This study demonstrates that a single dose of the IgG-degrading enzyme GC801 safely lowered pre-existing anti-AAV9 antibody levels in a neonate with infantile-onset Pompe disease, enabling successful GC301 gene therapy and a robust increase in GAA activity without adverse events.

Chen, J., Ma, W., Qi, H., Ma, X., He, Y., He, L., Ke, Y., Zhuang, L., Jiang, X., Wang, J., Xu, J., Xia, Y., Zhou, J., Wa (…)2026-09-29
📄 genetic and genomic medicine

Investigating laboratory capacity and whole genome sequencing practices to inform standardised protocols for bacterial genomic surveillance in Africa.

This study surveyed 52 institutions across 25 African countries to assess current laboratory capacity and whole genome sequencing practices for *Klebsiella pneumoniae*, revealing sufficient foundational capabilities but highlighting critical needs for investment in blood culture, supply chains, sequencing, and bioinformatics to establish standardized genomic surveillance protocols for neonatal sepsis.

Fortuin, C., Bolton, L., Dramowski, A., Foster-Nyarko, E., Holt, K. E., Newton-Foot, M., Rodrigues, C., Whitelaw, A.2026-09-28
📄 genetic and genomic medicine

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome

This study identifies a robust, minimal six-site alternative 5' splice-site splicing signature derived from RNA-sequencing data that serves as a specific and quantitative biomarker for distinguishing ReNU syndrome patients with severe T-loop U4 snRNA variants from controls, demonstrating its utility across tissues and in iPSC models for therapeutic development.

Dawes, R., Blakes, A., Markati, T., Griffiths, M., Cogne, B., Barakat, T. S., Barrett, J. C., Rinaldi, C., Sanders, S. J (…)2026-09-28
📄 genetic and genomic medicine

A founder population reveals genetic variation with major effect on serious mental illness

This study leverages exome sequencing of a Colombian founder population to identify a transdiagnostic frameshift variant in the ADAP1 gene, enriched by a founder effect, which confers a more than threefold increased risk for schizophrenia and bipolar disorder and is associated with distinct psychotic, manic, and cognitive phenotypes.

Gerdes, G., Tozzo, V., Service, S. K., Frydman-Gani, C., Diaz-Zuluaga, A. M., Valencia-Echeverry, J., Arias, A., Bicks (…)2026-09-27