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14 articles for “Genetic Variants”
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Genomic Medicine Revolutionizes Heart Care: A New Standard of Practice
Abstract: The integration of genomic and precision medicine into cardiovascular healthcare represents a transformative advancement in addressing the global burden of cardiovascular diseases (CVDs). Precision medicine leverages genomic, proteomic, and metabolomic data to provide personalized care, optimizing treatment outcomes while minimizing adverse effects. Over the past decade, extensive research has highlighted its potential to revolutionize the management of major CVDs, including myocardial infarction, hypertension, and heart failure, which significantly contribute to …
Published in International Journal of Tropical Medicines · Vol. 2, Issue 2, 2025 · pp. 30–37 Read article
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From Ancient DNA to Modern Livestock: Paleogenomics
Abstract: Paleogenomics, an interdisciplinary blend of paleontology and genomics, has revolutionized our understanding of ancient DNA and its applications across various fields. In Animal Genetics and Breeding, this field has emerged as a pivotal tool providing invaluable insights into the historical genetics of domesticated animals. By reconstructing and analyzing the genomes of long-extinct organisms, paleogenomics sheds light on genetic diversity, evolutionary dynamics, and adaptations of ancient species. Paleogenomics significantly impacts animal …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 1, Issue 2, 2023 · pp. 1–6 Read article
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Molecular Mechanisms of Drug Metabolism in Anesthesia: A Pharmacogenomic Perspective
Abstract: Pharmacogenomics studies how a person’s genetic profile affects their reaction to drugs, which is vital in anesthesia. Anesthetic pharmacology depends significantly on drug metabolism, which involves complex biochemical processes that manage the absorption, distribution, metabolism, and excretion (ADME) of anesthetic drugs. The cytochrome P450 (CYP) enzyme family plays a critical role in the metabolism of various anesthetic drugs, with genetic polymorphisms leading to inter-individual variability in drug responses. Specific CYP …
Published in Research & Reviews: A Journal of Drug Formulation, Development and Production · Vol. 12, Issue 1, 2025 · pp. 90–95 Read article
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AI-Driven Pharmacogenomics and Precision Medicine: Future of Personalized Therapy
Abstract: Pharmacogenomics and artificial intelligence (AI) are emerging as important drivers of precision medicine, enabling healthcare systems to adopt individualized therapeutic approaches. Pharmacogenomics examines how genetic variations influence drug response, efficacy, metabolism, and toxicity, while AI provides advanced computational tools for analyzing complex genomic and clinical data. This review highlights the integration of AI-driven pharmacogenomics in personalized therapy and its potential to improve treatment outcomes. Machine learning, deep learning, natural language …
Published in Emerging Trends in Personalized Medicines · Vol. 3, Issue 2, 2026 · pp. 1–12 Read article
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Statistical Models for Predicting Genetic Variability and Disease Susceptibility
Abstract: Differences in genetics are key to understanding why some individuals are more prone to certain diseases than others. Recent advancements in genomic research, combined with statistical modeling techniques, have made significant strides in predicting disease risk based on genetic factors. This review explores the application of statistical models for predicting genetic variability and their role in disease susceptibility. We discuss traditional methods like linear regression and genome-wide association studies (GWAS), …
Published in Research and Reviews : Journal of Computational Biology · Vol. 14, Issue 1, 2025 · pp. 30–34 Read article
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Association of Vitamin D Binding Protein BP rs2282679 Gene Polymorphism and Serum Levels of Vitamin D in Patients with Vitiligo
Abstract: For vitamin D to have an impact, the vitamin D receptor (VDR) must be expressed and activated in the nucleus. The VDR has several known genetic variants. Biological impacts can be caused by changes in DNA sequences known as "polymorphisms" that are common in the population. Vitiligo is a disease that causes loss of skin color in patches, and it is a chronic (long-lasting) autoimmune disorder loss of color. The …
Published in Research and Reviews : A Journal of Biotechnology · Vol. 14, Issue 2, 2024 · pp. 45–52 Read article
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Leveraging Genome-Wide Association Studies for Precision Medicine in Cardiovascular Diseases
Abstract: Cardiovascular diseases (CVDs) are the leading cause of death globally, with complex etiologies involving genetic, environmental, and lifestyle factors. Genome-wide association studies (GWAS) have significantly advanced the understanding of genetic underpinnings of CVDs by identifying numerous risk loci and variants associated with various cardiovascular conditions. This review explores the potential of GWAS to drive precision medicine in cardiovascular diseases by linking genetic data with clinical outcomes, providing insights into disease …
Published in Research and Reviews : Journal of Computational Biology · Vol. 14, Issue 1, 2025 · pp. 35–39 Read article
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Stretching Boundaries: A Comprehensive Review of Ehlers-Danlos Syndrome and its Subtypes
Abstract: The Ehlers-Danlos syndromes (EDS) encompass 13 inheritable disorders affecting connective tissue. These conditions arise from genetic alterations impacting the structure of connective tissue. Every variant of Ehlers-Danlos syndrome (EDS) exhibits distinct features and has specific diagnostic criteria. While certain traits such as joint hypermobility, skin hyperextensibility, and tissue fragility are common across all types of EDS. The range of clinical presentations spans from minor skin and joint looseness to severe …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 2, Issue 1, 2024 · pp. 44–57 Read article
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An Overview of Fanconi Anemia: A Genetic Disorder
Abstract: Fanconi Anemia (FA) is a rare genetic disorder caused by DNA repair defects due to pathogenic variants in one of 21 genes. It is the primary cause of inherited bone marrow failure, marked by pancytopenia. Clinically, Fanconi Anemia (FA) is associated with congenital malformations in multiple systems, resulting in progressive bone marrow failure and heightened cancer risk, especially in the urogenital region and the head and neck. There are approximately …
Published in International Journal of Oncological Nursing and Practices · Vol. 2, Issue 2, 2024 · pp. 19–25 Read article
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Pharmacogenomics in Anesthesia: Case Studies and Clinical Applications for Personalized Care
Abstract: Pharmacogenomics, the study of how genetic variability influences individual responses to medications, is transforming anesthetic practice by enabling personalized care. This case study collection explores the integration of pharmacogenomic insights into anesthesia management, highlighting its impact on safety, efficacy, and patient outcomes. Adverse reactions to anesthetics often arise from genetic polymorphisms that alter drug metabolism or sensitivity. For instance, patients with RYR1 mutations are susceptible to malignant hyperthermia (MH) when …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 15, Issue 2, 2025 · pp. 85–91 Read article
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The Power of Genetic Engineering in Revolutionizing Vaccines
Abstract: Genetic engineering techniques, including recombinant subunit, viral vector, and nucleic acid vaccines have transformed the landscape of vaccine development. These novel approaches offer precise antigen design, enhanced safety profiles, and rapid adaptability to emerging pathogens. Key advantages include improved efficacy through targeted immune responses, increased safety due to the absence of live pathogens, and the ability to modify vaccines to address new variants or diseases quickly. Notable success stories, such …
Published in International Journal of Vaccines · Vol. 2, Issue 1, 2025 · pp. 18–27 Read article
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An AAV Vector for Inducible Gene Expression Preferentially in Muscles
Abstract: Adeno associated viral (AAV) vectors has been used widely in gene therapy and efforts have been made to improve their utility by adding genetic elements that would enable targeting transgene expression to particular cells or tissues of interest and permitting on/off regulation of expression. In this study, we designed a recombinant AAV9 variant PHP.eB vector with muscle creatine kinase (Mck)-derived enhancers, a synthetic muscle-expression promoter, in combination with a third-generation …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 1, Issue 2, 2023 · pp. 46–61 Read article
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A Decade of Viral Evolution (2015–2025): Emergence, Mutations, and Implications for Global Health
Abstract: Over the past decade (2015-2025), viral evolution has profoundly reshaped the global health landscape, challenging healthcare systems, diagnostic tools, therapeutic strategies, and vaccine efficacy. This review comprehensively analyzes the evolutionary trajectories of major human and zoonotic viruses, with a focus on pandemic-prone, drug-resistant, and emerging pathogens. Viral evolution is driven by diverse molecular mechanisms including high mutation rates, recombination, reassortment, host immune pressure, and antiviral interventions, leading to genetic diversification, …
Published in International Journal of Vaccines · Vol. 2, Issue 2, 2025 · pp. 31–40 Read article
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Unraveling Metagenomics: A Comprehensive Diagnostic Approach for COVID-19
Abstract: The COVID-19 pandemic has brought attention to the need for rapid, accurate, and scalable diagnostic techniques. Metagenomics, a powerful technique that enables the comprehensive analysis of genetic material from complex microbial communities, has emerged as a promising diagnostic approach for COVID-19. This article elucidates the principles of metagenomic sequencing, highlighting its ability to detect viral RNA directly from clinical samples without prior knowledge of the pathogen. Furthermore, we discuss the …
Published in International Journal of Tropical Medicines · Vol. 1, Issue 2, 2024 · pp. 19–28 Read article