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9 articles for “Early Genetic Disorder Diagnosis”
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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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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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Stiff Person Syndrome: Advances in Understanding, Diagnosis, and Treatment of a Rare Autoimmune Disorder
Abstract: Stiff Person Syndrome (SPS) is a rare and complex autoimmune neurological disorder characterized by progressive muscle stiffness, rigidity, and painful spasms. This chapter provides a comprehensive overview of SPS, exploring its pathophysiology, clinical presentation, diagnostic challenges, and current treatment approaches. We discuss the latest research findings, including the role of autoantibodies, genetic factors, and environmental triggers in the development of SPS. The chapter examines various diagnostic methods, emphasizing the importance …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 14, Issue 3, 2024 · pp. 35–43 Read article
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Immunological Mechanisms Underlying Autoimmune Disorders: Recent Advances and Therapeutic Implications
Abstract: A diverse range of illnesses known as autoimmune disorders are typified by dysregulated immune responses against self-antigens, which result in tissue damage and persistent inflammation. Understanding the genetic, epigenetic, and environmental variables that contribute to autoimmune pathogenesis has advanced significantly during the last ten years. Current disease models have been transformed by new understandings of immunological tolerance mechanisms such as the functions of regulatory T cells, cytokine networks, and the …
Published in Research and Reviews : A Journal of Immunology · Vol. 16, Issue 1, 2026 · pp. 21–25 Read article
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Non-Small Cell Lung Cancer: Types, Pathogenesis, Diagnosis, and Novel Therapeutic Strategies
Abstract: Non-small cell lung cancer (NSCLC) is the most prevalent type of lung cancer, accounting for over 85% of all cases globally. It remains one of the primary causes of cancer-related death due to its rapid progression, few early symptoms, and late detection. The three main forms of non-small cell lung cancer (NSCLC) are adenocarcinoma, squamous cell carcinoma, and giant cell carcinoma; each has a unique histology, prognosis, and response to …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 16, Issue 2, 2026 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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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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Paediatric Epilepsy: Current Advances in Diagnosis and Management
Abstract: Paediatric epilepsy is one of the most common chronic neurological disorders of childhood, characterised by recurrent unprovoked seizures resulting from abnormal neuronal activity. Accurate diagnosis is essential and is based on a detailed clinical history, seizure semiology, neurological examination, and electroencephalography (EEG), with neuroimaging such as magnetic resonance imaging (MRI) used to identify structural abnormalities. Classification according to seizure type and underlying aetiology genetic, structural, metabolic, immune, infectious, or unknown—guides …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 16, Issue 1, 2026 · pp. 53–68 Read article
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Association between Diabetes Type and Family History of Diabetes: A Cross-Sectional Analysis of Gender Differences and Genetic Influences
Abstract: Introduction: Diabetes mellitus DM is one of the fast-growing chronic metabolic disorder in the world, with high impact and burden in low- and middle-income country. Although genetic predisposition is a central determinant of diabetes risk, particularly for Type 2 diabetes (T2D), the contribution of familial aggregation varies across populations. In many parts of the world where diabetes is rising very fast understanding the relationship between diabetes type and family history …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 15, Issue 3, 2025 · pp. 43–50 Read article