– Impact of pharmacogenetics on aspirin resistance: a systematic review
– The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
– Integration of pharmacogenomic and pharmacomicrobiomic data for personalized medicine
– Towards precision medicine for anxiety disorders: objective assessment, risk prediction, pharmacogenomics, and repurposed drugs
– Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants
Filed under Farmacogenómica, Medicina personalizada, Microbioma, Polimorfismos, Tratamientos by on . Comment.
Un editorial aparecido en The Lancet insiste en la necesidad de desarrollar estándares globales para la gobernanza y vigilancia de la edición del genoma humano, a propósito de la Tercera Cumbre Internacional sobre el tema. Lea Human genome editing: ensuring responsible research. The Lancet, 2023;401(10380):877.
Filed under Bioética, Edición del genoma, Tratamientos by on . Comment.
– Genomics in Clinical Practice
– Personalized medicine is having its day
– Genomic–transcriptomic evolution in lung cancer and metastasis
– Genomic profiling to expand precision cancer medicine in the real world: The ROME trial
– On the gene expression landscape of cancer
– Precision Medicine in Type 1 Diabetes
– 2023 Watch List: Top 10 Precision Medicine Technologies and Issues
Filed under Cáncer, Genómica, Medicina personalizada, Transcriptómica by on . Comment.
– Returning integrated genomic risk and clinical recommendations: The eMERGE study
– The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
– Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Filed under Diagnóstico, Polimorfismos, Publicaciones by on . Comment.
– Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
– Diagnostics for rare diseases
– Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
– Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Filed under Algoritmos, Diagnóstico, Genómica, Medicina personalizada, Polimorfismos by on . Comment.
El brote de hepatitis infantil inexplicada que afectó a más de mil niños en todo el mundo tiene una causa probable: el ADN del virus 2 adenoasociado (AAV2) ha sido encontrado en el hígado, la sangre, el plasma y las heces de 27 niños en Reino Unido. Lea el reporte en Morfopoulou S, Buddle S, Torres OE, Atkinson L, Guerra-Assunção JA, Moradi M, et al. Genomic investigations of unexplained acute hepatitis in children. Nature, 2023; https://doi.org/10.1038/s41586-023-06003-w.
Filed under Diagnóstico, Genómica, Patógenos by on . Comment.
Paul Berg, inventor de la tecnología del ADN recombinante, falleció el pasado 15 de febrero, a la edad de 96 años. Algunos elementos de su vida y obra son comentados en Baltimore D. Paul Berg (1926–2023). Father of genetic engineering. Science, 2023;379(6637):1095.
Filed under Propuesta del editor by on . Comment.
El Colegio (norte)Americano de Genética y Genómica ha lanzado la revista Genetics in Medicine Open (GIM Open), que acompaña a Genetics in Medicine, para abordar la genética médica y la medicina genómica, incluidos los aspectos relativos a las terapias. El editorial inicial puede ser visto en Yuan B. Genetics in Medicine Open to us all. Genetics in Medicine Open, 2023;1(1):100772.
Filed under Medicina personalizada, Publicaciones by on . Comment.