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14 articles for “inherited disorders”
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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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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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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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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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Hearing, Speech, and Language Characteristics in a Case with Hemoglobinopathy Secondary to Beta Thalassemia Intermedia
Abstract: Background: Thalassemia is an inherited disorder characterized by a reduced amount or absence of hemoglobin, the oxygen-carrying protein inside the red blood cell. Thalassemia has its types called alpha and beta-thalassemia. Beta thalassemia is a condition in which there is a reduction or deficit in the synthesis of the beta-globin chain of hemoglobin molecules caused by a mutation in chromosome eleven. Beta thalassemia can be broadly categorized into three main …
Published in Research and Reviews : A Journal of Medical Science and Technology · Vol. 14, Issue 1, 2024 · pp. 1–5 Read article
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The Curious Case of the Sphered Blood Cells: Unveiling Hereditary Spherocytosis
Abstract: Hereditary spherocytosis (HS) is an inherited blood disorder that disrupts the shape and flexibility of red blood cells (RBCs) due to genetic mutations. These abnormal, sphere-shaped RBCs, called spherocytes, are prematurely destroyed in the spleen, leading to hemolytic anemia. Symptoms range from mild fatigue to chronic weakness and shortness of breath. While incurable, Hereditary spherocytosis can be effectively managed. Regular monitoring, folic acid supplementation, and in severe cases, splenectomy (surgical …
Published in Research and Reviews : A Journal of Medical Science and Technology · Vol. 13, Issue 1, 2024 · pp. 49–57 Read article
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Targeting Vasopressin 2 Receptor (V2R) in Renal Cystogenesis by Exploring the Nephroprotective Potential of “Terminalia arjuna”
Abstract: Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, leading to the formation of multiple cysts in the kidneys. It is a major cause of end-stage renal disease (ESRD), which often requires dialysis or a kidney transplant for survival. This research focuses on identifying potential bioactive compounds derived from natural sources that show promise for drug development targeting the V2R gene. Methods: The naturally occurred …
Published in Research and Reviews : Journal of Computational Biology · Vol. 13, Issue 2, 2024 · pp. 14–24 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 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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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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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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An Overview of Gene Therapy
Abstract: Gene therapy is a revolutionary technique in medical science that seeks to cure or stop illnesses by means of introducing, altering, or quieting genes inside a patient's cells. Advancements in molecular biology, genetics, and biotechnology have propelled this field forward markedly changed over the last few decades. The underlying idea of gene therapy is to introduce genetic material into target cells via viral or non-viral vectors to rectify faulty genes, …
Published in Research and Reviews: A Journal of Pharmaceutical Science · Vol. 16, Issue 3, 2025 · pp. 89–105 Read article
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From Hope to Healing: Addressing the Hidden Struggles of Infertility and the Power of Early Prevention
Abstract: Female gravidity is a major issue that has affected numerous people because of difficulties in getting pregnant and having children. This problem is caused by several factors like a stressful life, too important exposure to radiation, not enough healthy food, inheritable issues, changes in diurnal habits, and increased use of electronic bias. The process of releasing an egg from the ovaries depends on hormones from the brain, pituitary gland, and …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 16, Issue 2, 2026 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