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.
This study analyzing 490,640 UK Biobank genomes found that severe combined immunodeficiency (SCID) variants exhibit high penetrance and a low prevalence of biallelic pathogenic variants, supporting the inclusion of SCID in genomic newborn screening while highlighting the need for careful reporting of hypomorphic variants.
This study demonstrates that pervasive non-causal "tagging" effects, driven by shared transcription factor binding sites and peak co-accessibility, confound enhancer-gene linking in single-cell multiome data, necessitating the use of fine-mapping methods like SuSiE to distinguish true causal regulatory relationships from spurious correlations.
This study presents the first genome-wide association analysis of lateral epicondylopathy, identifying two significant risk loci that implicate SIBLING genes in extracellular matrix remodelling and challenge previously reported collagen gene associations.
The authors developed and validated "Phylo-Plex," a low-cost, high-resolution amplicon sequencing platform that enables deployable genomic epidemiology for tracking pathogen lineages in low-resource settings by maximizing phylogenetic information with minimal genomic regions.
This study utilizes postmortem DNA methylation profiling of cardiac ventricles to identify specific methylation signatures near the PITX2 and PANCR genes associated with left ventricle size, thereby highlighting the critical importance of standardized multi-region tissue sampling in forensic cardiac investigations.
This study presents the first cell type-resolved map of DNA methylation in the prefrontal cortex of Parkinson's disease patients, revealing that the disease is characterized by neuronal-specific hypermethylation at seven distinct loci, including genes such as ROBO4 and PDE4B, while showing no significant methylation changes in glial cells.
Through multiomic analysis of over 200 cell lines, this study elucidates the cooperative architecture of mitochondrial proteome homeostasis by revealing extensive post-transcriptional regulation, identifying novel protein functions and disease genes, and uncovering mechanisms linking protein assembly to mtDNA copy number variation.
This study presents the first genome-wide association meta-analyses of optic nerve integrity biomarkers in over 25,000 participants, identifying numerous novel genetic loci and prioritizing IOP-independent candidate genes like NMNAT2 and TRIOBP as potential therapeutic targets for glaucoma.
This multi-ancestry biobank study extends the genetic relevance of SORL1 beyond Alzheimer's disease to Parkinson's disease and related dementias by identifying numerous potentially disease-causing variants across diverse populations, although it found no significant cumulative gene-based burden effect.
This cross-sectional study of 278 participants in Derna District reveals that while most individuals hold positive attitudes toward genetic counseling, significant gaps in knowledge and barriers such as fear of results necessitate targeted educational initiatives to improve its utilization for preventing genetic disorders.