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25 articles for “genetic disorders”
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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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FutureGen – Predicting Genetic Health
Abstract: FutureGen is an intelligent web-based system developed to help couples assess the risk of genetic disorders in their future child through data-driven analysis. The system brings together modern web technologies and machine learning to offer accurate and accessible predictions. The frontend, built with React, provides an intuitive interface for user interaction, while a Flask-based backend API handles model inference and manages communication with the Supabase database, which securely stores user …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 4, Issue 1, 2026 Read article
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Gene Therapy in Modern Medicine: Promises and Challenge in Treating Genetic Diseases
Abstract: Gene therapy is a medical approach that focuses on altering or adjusting an individual’s genes to treat or prevent illnesses. The aim is to repair faulty genes or insert new ones into the body to combat diseases. Gene therapy can involve directly introducing modified or new genes into a patient’s cells or altering the genes already present in the patient’s body. This approach shows potential for treating a range of …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 2, Issue 2, 2024 · pp. 27–32 Read article
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Gene Therapy 2.0: Harnessing Cutting-Edge Technologies for Precision Medicine
Abstract: Somatic gene therapy has become the standard form of gene therapy; this creates the Gene Therapy 2.0 era. This new and distinct time consists in the new-generation genome-editing tools and markers, more efficient systems for gene delivery, and personalized medicine approaches that raise the efficacy and safety of the treatment. Base and prime editing are two types of CRISPR-based gene editing tools have provided high precision and reduced off-target effects …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 3, Issue 2, 2025 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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GenChrome-ML: A Machine Learning Framework for Early Detection of Chromosomal Disorders Using Genomic Data
Abstract: The increasing burden of chronic disease and cancer demands innovative, more rapid and effective diagnostic tools in the field of healthcare. The majority of current diagnostic tools are dependent upon clinical symptomology and manual evaluation, leading to delays in early detection and treatment. The development of artificial intelligence (AI) and machine learning (ML), in recent years, has offered opportunities for the enhancement of disease prediction, diagnosis and personalization of treatment …
Published in International Journal of Bioinformatics and Computational Biology · Vol. 4, Issue 2, 2026 Read article
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Genetic Counseling: A Pathway to Understanding and Managing Inherited Health Risks
Abstract: Genetic counseling is an essential aspect of personalized medicine that supports individuals and families in understanding the implications of inherited health conditions. With the rising prevalence of genetic disorders and advancements in genomic technologies, counseling provides critical insights into risk factors, diagnostic options, and informed decision-making. This paper explores the classification of genetic disorders, major genetic and environmental causes, and the expanding role of genetic counseling within India’s culturally diverse …
Published in International Journal of Evidence Based Nursing And Practices · Vol. 4, Issue 1, 2026 · pp. 10–14 Read article
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Screening Phytocompounds of Tinospora cordifolia to Find Potential Drug Targets for Cystic Fibrosis
Abstract: This study aimed to evaluate the therapeutic potential of phytocompounds derived from Tinospora cordifolia in treating cystic fibrosis (CF), a genetic disorder caused by mutations in the CFTR gene that lead to severe respiratory and digestive complications. Phytocompounds were retrieved from the IMPPAT database and subjected to molecular docking simulations using PyRx to assess their binding affinity to the CFTR protein. The top-scoring compounds – sterol, magnoflorine, tembetarine, kaempferol, and …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 3, Issue 1, 2025 · pp. 16–24 Read article
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CRISPR-Cas9: Revolutionizing the Genetic Frontier
Abstract: The rapid development of CRISPR/CRISPR-associated enzyme (Cas) technology has enabled truly customised treatment of human genetic disorders, paving the way for recent developments in the field of gene therapy. Because CRISPR/Cas can accurately target and edit individual genes within a genome, it has established itself as a formidable tool for genetic manipulation. CRISPR/Cas9 technology allows for precise editing of specific DNA sequences in an organism's genome. This method uses three …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 3, Issue 2, 2025 Read article
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Crispr Cas – Revolutionizing Modern Therapies and Beyond
Abstract: CRISPR-Cas technology has emerged as a transformative tool in modern molecular biology, revolutionizing both fundamental research and clinical applications. This RNA-guided gene-editing system enables precise and efficient genomic modifications, offering unprecedented potential for addressing genetic disorders, infectious diseases, and oncological conditions through innovative therapeutic interventions. The inherent specificity and programmability of CRISPR-Cas systems have facilitated breakthroughs in diverse fields, including precision medicine, regenerative therapies, and immuno-oncology. Beyond its therapeutic applications, …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 3, Issue 1, 2025 · pp. 25–38 Read article
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Gene Editing in Dairy Cows: Advancing Milk Yield, Health, and Resilience for Sustainable Dairy Development
Abstract: Gene editing has emerged as a transformative tool in dairy science, offering unprecedented opportunities to enhance productivity, improve animal health, and bolster resilience against environmental challenges. This study explores the potential of gene editing technologies, including CRISPR-Cas9, in advancing milk yield, optimizing milk composition, and addressing genetic disorders in dairy cows. Specific applications include targeting genes associated with mastitis resistance, improving feed efficiency, and introducing heat tolerance traits to adapt …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 3, Issue 2, 2025 Read article
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Epidermolysis Bullosa and Its Role in Cervical Cancer: An Overview
Abstract: Epidermolysis Bullosa is a group of uncommon genetic disorders that primarily affect the skin and mucous membranes. It is marked by severe skin fragility and the formation of blisters even after minor trauma. Traditionally, the focus of Epidermolysis Bullosa research has been on its dermatological manifestations, which include recurrent blistering, scarring, and the potential for infections due to the compromised skin barrier. However, recent advancements in Epidermolysis Bullosa research have …
Published in International Journal of Cell Biology and Cellular Functions · Vol. 2, Issue 2, 2024 · pp. 14–18 Read article
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A Comprehensive Review on Long-term Care Policies for Intellectual and Developmental Disabilities
Abstract: Intellectual disability (ID) is a neurodevelopmental difficulty that affects both intellectual functioning and adaptive behaviour. The term IDD describes a broad range of long-term disorders that are caused by either physical or mental deficits. These disorders can influence numerous facets of life, such as self-care, social skills, communication, and education. This condition affects social and practical abilities daily. Conditions like cerebral palsy, Down syndrome, and autism spectrum disorder, Genetic predispositions, …
Published in International Journal of Trends in Humanities · Vol. 1, Issue 2, 2024 · pp. 36–42 Read article
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Beyond Generalized Treatment: The Future is Personalized Medicine
Abstract: Personalized medicine, which is also called as precision medicine, is reestablishing the view of new healthcare by replacing the traditional "one-size-fits-all" approach with individual therapies made according to a patients unique genomic organization, environment, and lifestyle. This article talks about the scientific foundation, important applications, ethical challenges, and the significant potential of personalized medicine in enhancing the clinical outcomes. From oncogenic and genetic disorders to chronic diseases, the addition of …
Published in Emerging Trends in Personalized Medicines · Vol. 2, Issue 2, 2025 Read article
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Advancing Gene Therapy: Next-Generation Viral Vector Engineering for Precision, Safety, and Scalability
Abstract: Gene therapy has emerged as a paradigm-shifting modality for the treatment of genetic disorders, malignancies, and rare diseases through the delivery of therapeutic nucleic acids aimed at correcting or modulating dysfunctional gene expression. Among the various delivery systems, viral vectors including adeno-associated viruses (AAVs), lentiviruses, adenoviruses, retroviruses, and herpes simplex viruses have proven indispensable owing to their high transduction efficiencies and adaptability. This review offers a comprehensive assessment of viral …
Published in International Journal of Virus Studies · Vol. 2, Issue 2, 2025 · pp. 37–55 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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Global Burden of Major Depressive Disorder: Prevalence, Diagnosis, and Impact: A Comprehensive review
Abstract: In this review, we will discuss about the major depressive disorders on the basis of neurobiological changes. MDD, a prevalent psychiatric condition, manifests as a complex interplay of genetic, environmental, and physiological factors with a substantial impact on individuals and societies globally. Here the clinical assessment is fully based on diagnosis and the statistical manual for mental disorder, 5th edition (DSM-5). The pathophysiology involves Diagnosis alterations in neurotransmitter systems, dysregulation …
Published in Emerging Trends in Metabolites · Vol. 1, Issue 1, 2024 · pp. 54–62 Read article
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Comprehensive Review of Moebius Syndrome: Clinical Landscape, Etiology, and Therapeutic Challenges
Abstract: Moebius syndrome, a rare congenital neuromuscular disorder, presents with non-progressive facial weakness, limited eye abduction, and diverse manifestations affecting cranial nerves. This comprehensive review explores its clinical landscape, emphasizing the need for extensive investigations into its elusive etiology and genetic underpinnings. The estimated prevalence is 1 in 250,000 live births, with sporadic cases prevailing. Initial symptoms, evident from birth, encompass difficulties in sucking, and feeding, and absent facial expressiveness. Beyond …
Published in International Journal of Bioinformatics and Computational Biology · Vol. 2, Issue 1, 2024 · pp. 27–38 Read article
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Trauma- Its Transgenerational Inheritance and Associated Nuances in Perinatal Care: A Systematic Review
Abstract: The research is a systematic review of the existing clinical and animal studies pertaining to effects of trauma on immediate offsprings and its transgenerational inheritance. The research also summarises the current statistical data on perinatal care globally with special emphasis on India as a developing nation and the current strategies, government policies and international recommendations on maternal and child health as put forward in the Sustainable development goal 2030 by …
Published in International Journal of Children · Vol. 1, Issue 1, 2024 · pp. 37–45 Read article
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Microbial Symphony: Understanding Biochemical Pathways for Precision Medicine and Beyond
Abstract: The human microbiome, an intricate ecosystem of microorganisms inhabiting the body, is a key regulator of host biochemistry and physiology. This review delves into the complex biochemical pathways influenced by the microbiome, spotlighting critical metabolites like short-chain fatty acids, bile acids, and tryptophan derivatives, which impact immune regulation, energy metabolism, and neurobehavioral functions. By examining interactions between the microbiome and the host, including the influence of genetic factors and metabolite-driven …
Published in International Journal of Antibiotics · Vol. 2, Issue 1, 2025 · pp. 28–43 Read article