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65 articles for “Genetic disorder”
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Innovations in Gene Therapy: Revolutionizing Treatment for Genetic Disorders and Diseases
Abstract: Gene therapy is a revolutionary intervention in the treatment of genetic diseases since it is an intervention that aims at the very source of diseases, through editing and modification of genes. More recent innovations in gene editing systems, such as CRISPR-Cas9, CRISPR-Cas12, and prime editing, have greatly increased the accuracy and effectiveness of gene therapies, enabling more specific therapies. The opportunities of personalized medicine are also extended by the creation …
Published in Research and Reviews : A Journal of Biotechnology · Vol. 16, Issue 1, 2026 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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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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X - Chromosome Linked Rett Syndrome
Abstract: Rett Syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females synonymized as “Cerebroatrophic hyperammonemia”. It is due to genetic mutation of the MECP2 gene present on the X-chromosome. Develops as a new mutation with
Published in Research and Reviews: A Journal of Neuroscience 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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Liposomes as Therapeutic Vehicles: Advancing Targeted Drug Delivery in Healthcare
Abstract: Liposomes represent an innovative approach to targeted drug delivery. These tiny, lipid-based vesicles can encapsulate medications, allowing them to travel directly to diseased cells while minimizing impact on healthy tissues. By using liposomes, medications can improve their effectiveness while reducing side effects, leading to better overall treatment results.. Their structure enables a controlled release of the drug, which can be particularly beneficial for therapies requiring sustained action. This technology holds …
Published in Research & Reviews: A Journal of Drug Design & Discovery · Vol. 11, Issue 3, 2024 · pp. 39–46 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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Wiskott-Aldrich Syndrome: A Comprehensive Guide
Abstract: Wiskott-Aldrich Syndrome (WAS) is an uncommon genetic disorder inherited through the X chromosome, marked by a combination of immune system deficiencies, eczema, and low platelet counts. This syndrome primarily affects males, leading to significant morbidity and mortality due to recurrent infections, bleeding complications, and autoimmune diseases. Mutations in the WAS gene disrupt the production of the Wiskott-Aldrich Syndrome protein (WASp), crucial for the functioning of immune cells and platelet formation. …
Published in Research and Reviews : A Journal of Immunology · Vol. 14, Issue 2, 2024 · pp. 39–46 Read article
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Unravelling the Environment, Aroma, and Molecular Effects on Mood Fluctuations: A Review
Abstract: The ebb and flow of human emotions encompass a complex interplay of molecular processes governing mood fluctuations. This comprehensive review navigates the intricate realm of neurotransmitters, neuroplasticity, hormonal influences, genetics, and inflammation to unravel the molecular tapestry that shapes our emotional states. Foundational to mood regulation are neurotransmitters – serotonin, dopamine, and norepinephrine – orchestrating delicate balances within neural circuits. Recent molecular neuroscience elucidates their receptor pathways and signaling cascades, …
Published in Research and Reviews: A Journal of Neuroscience · Vol. 14, Issue 3, 2024 · pp. 14–20 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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A Review of Biotechnology Advancements as Key Drivers of Scientific Innovations
Abstract: The rising human challenges have necessitated the quest to find lasting solutions to improve living standards. Challenges in food security in terms of quality and quantity, medical and health issues, energy deficiency and limitations in areas of transportation, domestic and industrial needs, as well as environmental issues are some major areas of application of biotechnology to sustain human existence. This review examines major scientific innovations driven by biotechnology. Biotechnology applied …
Published in Research and Reviews : A Journal of Biotechnology · Vol. 15, Issue 3, 2025 · pp. 22–33 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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Current Perspectives of Prader -Willi Syndrome: A Multisystem Approach
Abstract: Prader-Willi syndrome (PWS) is a genetic disorder with multisystem involvement, caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both. It is a complex and contiguous gene disorder which affects the multiple systems with many clinical presentations especially hypothalamic insufficiency. The clinical features are characterized by short stature position, developmental delay, cognitive …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 14, Issue 2, 2024 · pp. 42–48 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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Targeting Dystrophin Restoration and Neuroprotection in Duchenne Muscular Dystrophy: Insights from Withania somnifera
Abstract: Duchenne muscular dystrophy is a genetic disorder. This disease affects men more common than women. Main objective of the present study was to identify the naturally active phytocompounds from Withania somnifera (Ashwagandha). Ashwagandha has a great value in the field of Ayurveda and Indian medicine and is used for treating muscular and neurological disorders. Toxicity prediction, molecular docking, statistical information, drug illness prediction, and Absorption, distribution, metabolism, excretion, and toxicity …
Published in Research and Reviews: A Journal of Pharmaceutical Science · Vol. 15, Issue 2, 2024 · pp. 64–84 Read article