📄 Category

genetic and genomic medicine

147 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

Genetic Architecture of Placental Efficiency for Term Infants: Evidence from Monoaminergic Pathways and Placental Tissue Expression in the Norwegian Mother, Father and Child Cohort Study (MoBa)

This study identifies a distinct genetic architecture for placental efficiency in the MoBa cohort, revealing that monoaminergic pathways and placental tissue expression link placental function to offspring neurodevelopment while showing minimal genetic overlap with birth weight.

Andersen, J. O., Nerland, S., Jaholkowski, P. P., Ursini, G., Djurovic, S., Staff, A. C., Dale, A., Andreassen, O., Agar (…)2026-06-07
📄 genetic and genomic medicine

Metatranscriptomics-Derived Disease Risk Scores as a Preventive, Diagnostic, and Treatment Support Tool

This study presents and validates a metatranscriptomics-based Disease Risk Score (DRS) framework that integrates active microbial and human gene expression signals from stool, saliva, and blood to stratify risk for 15 chronic conditions, demonstrating its potential as an adjunct decision-support tool for preventive, diagnostic, and treatment guidance in clinical scenarios characterized by uncertainty or delayed diagnosis.

Hu, L., Bass, M., Patridge, E., Molusky, M., Antoine, G., Vuyisich, M., Banavar, G.2026-06-06
📄 genetic and genomic medicine

DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

This study demonstrates that DHDDS-related juvenile parkinsonism arises from impaired lipid metabolism, glycosylation defects, and mitochondrial dysfunction in patient-derived brain organoids, and that these pathological features, along with associated clinical symptoms, can be effectively rescued by NAD⁺ precursor (NMN) treatment.

Muffels, I. J. J., Kantautas, K. A., MacDonald, G., Garapati, K., Pasupuleti, R. R., Tinker, R. J., Shah, R., Thevandava (…)2026-06-05✓ Author reviewed ⓘ
📄 genetic and genomic medicine

Prioritizing embryos with lower homozygosity may reduce disease risk in children of related individuals undergoing preimplantation genetic testing

This paper proposes that integrating embryo-level autozygosity quantification (FROH) into existing preimplantation genetic testing workflows allows couples from consanguineous unions to prioritize embryos with lower homozygosity, potentially reducing the risk of intellectual disability and recessive diseases by approximately 35–45%.

Wolfram, T., Ahangari, M., Davidson, I., Wartschinski, L., Li, J. H., Eyre, M., Stern, D., Schleede, J., Haghighi, A., C (…)2026-06-04
📄 genetic and genomic medicine

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The Biobank Rare Variant Analysis (BRaVa) consortium leverages a global meta-analysis of over 1.2 million individuals across ten diverse biobanks to discover 514 rare gene-trait associations, demonstrating that federated integration significantly enhances the detection of rare genetic variants and their biological mechanisms beyond the capacity of individual cohorts.

Palmer, D. S., Hill, B., Hodgson, S., Joeloo, M., Kalantzis, G., Kousathanas, A., Koyama, S., Lu, W., Namba, S., Rodrigu (…)2026-05-24
📄 genetic and genomic medicine

Artificial Intelligence-Based Chatbots in Genetic Counseling Practice: Current Uptake, Utilization, and Perspectives

A survey of North American genetic counselors reveals that while AI chatbots are widely used for general purposes and viewed as promising tools for improving workflow efficiency and patient education, their clinical adoption remains low due to concerns regarding accuracy, patient comprehension, and a lack of structured training.

Daley, N., Griswold, A., Moreno, L., Floyd, A., Duong, D., Solomon, B. D., Waikel, R. L.2026-05-24
📄 genetic and genomic medicine

Evaluation of the Contribution of Natural Selection to Greater Cardiometabolic Disease Risk in South Asian Populations

This study suggests that while ancient or polygenic selection on standing variation likely contributed to the higher cardiometabolic disease risk in South Asian populations compared to Europeans, recent selective sweeps and gene-gene or gene-environment interactions are unlikely to be the primary drivers of this disparity.

Searby, D. J. C., Hemani, G., Chong, A., Lawson, D. J., Chaturvedi, N. J., Davey Smith, G.2026-05-22
📄 genetic and genomic medicine

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

By constructing a multi-ancestry long-read sequencing panel to impute structural variants in 500,000 UK Biobank participants, this study enables large-scale genome-wide association analyses that uncover thousands of significant disease links and demonstrate the superior ability of structural variants to prioritize causal genes compared to traditional short-variant GWAS.

Noyvert, B., Erzurumluoglu, A. M., Drichel, D., Omland, S., Andlauer, T. F. M., Mueller, S., Sennels, L., Becker, C., Ka (…)2026-05-19
📄 genetic and genomic medicine

Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease

This study identifies that rare bi-allelic loss-of-function variants in the LRRK2 gene cause a recessive Mendelian form of interstitial lung disease characterized by lung fibrosis and alveolar type 2 cell dysfunction, distinguishing it from the Parkinson's disease associated with heterozygous activating variants.

Sammler, E. M., Kalacyi, T., Wikenheiser-Brokamp, K. A., Gomes, S., Rawat, E. S., Peljto, A., Cheung, A., Citak, S., Vay (…)2026-05-19
📄 genetic and genomic medicine

Single-cell genetics identifies cell-type-specific effector genes across complex traits and diseases

This study leverages single-cell eQTL mapping across 28 peripheral immune cell types to construct a comprehensive catalogue of cell-type-specific effector genes for 69 diseases and 31 biomarker traits, revealing distinct immune contributions to complex conditions and identifying targets with a higher likelihood of regulatory approval.

Henry, A., Senabouth, A., Tyebally, R., Bowen, B., Allen, P. C., Spenceley, E., Sagi-Zsigmond, E., McCloy, R. A., Cuomo (…)2026-05-18