Genomic medicine has considerable potential to provide novel diagnostic and therapeutic solutions for patients who have molecularly complex diseases and who are not responding to existing therapies. To bridge the gap between genomic medicine and clinical practice, integration of various data types, resources, and joint international initiatives will be required.
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http://dx.doi.org/10.1186/s13073-019-0622-1 | DOI Listing |
JAMA Cardiol
January 2025
Program of Medical and Population Genetics, Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard, Cambridge, Massachusetts.
Importance: Treatment to lower high levels of low-density lipoprotein cholesterol (LDL-C) reduces incident coronary artery disease (CAD) risk but modestly increases the risk for incident type 2 diabetes (T2D). The extent to which genetic factors across the cholesterol spectrum are associated with incident T2D is not well understood.
Objective: To investigate the association of genetic predisposition to increased LDL-C levels with incident T2D risk.
Fish Physiol Biochem
January 2025
Neurobiology Program, Sirius University of Science and Technology, Sochi, Russia.
Stress plays a key role in mental, neurological, endocrine, and immune disorders. The zebrafish (Danio rerio) is rapidly gaining popularity as s model organism in stress physiology and neuroscience research. Although the leopard (leo) fish are a common outbred zebrafish strain, their behavioral phenotypes and stress responses remain poorly characterized.
View Article and Find Full Text PDFJ Clin Immunol
January 2025
Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA, USA.
Reduced function or hypomorphic variants in recombination-activating genes (RAG) 1 or 2 result in a broad clinical phenotype including common variable immunodeficiency (CVID) and even adult-onset disease. Milder RAG variants are less characterized. Here we describe the longitudinal course of a milder combined RAG deficiency in 3 of 7 siblings sharing the same RAG2 mutations over a 50-year study.
View Article and Find Full Text PDFJ Neurol
January 2025
Morehouse School of Medicine, Neuroscience Institute, 720 Westview Drive SW, Atlanta, GA, 30310, USA.
Objectives: The ability to differentiate epileptic- and non-epileptic events is challenging due to a lack of reliable molecular seizure biomarker that provide a retrospective diagnosis. Here, we use next generation sequencing methods on whole blood samples to identify changes in RNA expression following seizures.
Methods: Blood samples were obtained from 32 patients undergoing video electroencephalogram (vEEG) monitoring.
Int J Syst Evol Microbiol
January 2025
ABS Research Support Center, KRIBB, 125 Gwahak-ro, Yuseong-gu, Daejeon, Republic of Korea.
Two Gram-stain-negative cocci anaerobes were isolated from pig faeces and designated as strains YH-vei2232 and YH-vei2233. Phylogenetic analysis using 16S rRNA gene sequences revealed that the isolates were most closely related to KCTC 5967, with 97.0% similarity.
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