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.
PanelAppRex is an openly available, harmonized resource and interactive search tool that aggregates over 58,000 curated gene-disease panel associations to facilitate sophisticated, natural language-based queries and seamless integration into bioinformatic pipelines for genomic diagnostics.
This paper introduces the first mass spectrometry sterolomic library, utilizing Girard P derivatization and electrospray ionization, to facilitate the diagnosis and monitoring of rare inherited cholesterol-related disorders that currently lack specific diagnostic tests.
This study demonstrates that incorporating plasma protein quantitative trait loci (pQTL) evidence significantly enhances the clinical success rate of therapeutic targets, increasing the likelihood of advancing from Phase I to launch by 4.7-fold compared to the 2.6-fold improvement seen with human genetic evidence alone.
In a Mexican population with type 2 diabetes, the FTO rs9939609-A variant is significantly associated with poorer glycemic control despite pharmacologic treatment.
This retrospective genomic epidemiology study utilized whole-genome sequencing to identify a multidrug-resistant *Klebsiella pneumoniae* ST39 strain as the cause of a fatal neonatal sepsis outbreak in a rural Gambian hospital, pinpointing contaminated multi-use intravenous fluids as the source and highlighting the global spread and high-risk nature of the SL39 sublineage.
This study presents the largest genome-wide association study of Parkinson's disease in African and African admixed populations to date, identifying both trans-ancestry risk loci and novel ancestry-specific variants, particularly in LRRK2, which validates current therapeutic targets and highlights the critical need for inclusive genetic research to advance precision medicine.
This study demonstrates that in admixed Latin American populations, polygenic risk scores for Parkinson's disease derived from large European GWAS currently outperform those from smaller ancestry-matched datasets, though methods incorporating functional annotations like SBayesRC offer the best predictive performance, highlighting the urgent need for larger, diverse genetic studies to ensure equitable clinical translation.
This Mendelian randomization study provides genetic evidence that psoriasis is causally associated with an increased risk of inflammatory bowel disease and its subtypes, while type 2 diabetes shows a modest inverse association specifically with ulcerative colitis.
This paper proposes that the persistence of late-onset Alzheimer's disease alleles is driven by a combination of sexual antagonism, which increases risk in females while potentially benefiting males, and antagonistic pleiotropy, which links reduced Alzheimer's risk to increased cancer risk in males.
This paper argues that the claim of a 55% heritability for human lifespan is fundamentally flawed because it incorrectly assumes susceptibility to "extrinsic" causes of death, such as infections and accidents, is non-genetic, thereby introducing selection bias that artificially inflates heritability estimates.